Clinical Atlas in Endocrinology and Diabetes: A Case-based Compendium Nihal Thomas, Felix Jebasingh K, Mathews Edatharayil Kurian
Page numbers followed by f refer to figure and t refer to table.
Abdomen 78f, 79f, 95, 96, 96f, 171, 191f, 218, 220f, 223f, 224f, 466f, 480f, 483f
ultrasonography of 336f
upper 202, 203f
Abdominal pain 175, 193, 214
left-sided 226
Abdominal wall, anterior 140f, 439
Abiraterone 491
irregular 483
nigricans 75f, 432, 433, 438f
Achilles tendon region 444f
Achondroplasia 369, 470f
Acne 198
Acral vitiligo 77f
Acromegalic features 258f
Acromegaly 246
clinical features in 251
Acro-osteolysis 381f
Addison's disease 163, 188, 189, 191, 475
Addisonian crisis 189
Adenocarcinoma 303, 303f
Adenohypophyseal tissue 264
Adenoma 184, 245, 264
benign 4
Adipose tissue replacement 96
Adrenal adenoma 167, 193f, 482
diagnosis of 165
left 212f
Adrenal cortex 189
Adrenal cortical hyperplasia 193
Adrenal cyst 217
excision, transperitoneal 216
Adrenal enlargement 164f
Adrenal ganglioneuroma 220
Adrenal gland 161f, 159f, 164f, 183, 193, 214, 216, 222
bilateral enlarged 161f, 191f
disorders of 151
right 171, 175, 191f, 208f
Adrenal hemorrhage, spontaneous 193
Adrenal hyperplasia
congenital 403
nonclassical 482
Adrenal incidentaloma, left 213
Adrenal insufficiency 95, 192, 214
Adrenal lymphomas, primary 215
Adrenal mass
bilateral nonenhancing 222f
left 165f, 169f
right 169f, 201f, 220f, 221f
Adrenal venous sampling 167
laparoscopic right 218
right 176
open 198
Adrenocortical carcinoma 198, 201f, 220
Adrenocortical insufficiency 189
Adrenocorticotropic hormone 154, 163, 168, 214, 232, 238, 260, 266, 276, 290, 403, 475
Adynamic bone disease 328
Alanine 337
Albers-Schönberg disease 385
Albright's hereditary osteodystrophy 390, 435
Albumin 214
Aldosterone : renin ratio 167
Alkaline phosphatase 331, 350, 355
Alkaptonuria, diagnosis of 477
Alopecia 19, 201f, 333f
areata 22
Alström syndrome 433, 435
Ambiguous genitalia 405f, 418, 419, 420f
clinical images of 405
Amenorrhea 198, 301
causes of primary 417
evaluation of 482
hypothalamic 74
primary 406, 417, 418, 423, 466
Amino acid substitution 357
Amphotericin B 159
Amyloid deposits 60f
Amyloidosis 10
Anaplastic cancer, symptom of 63
Anaplastic carcinoma 63, 65f
Anaplastic thyroid cancers 63
Androgen 398
insensitivity syndrome, partial 419
Anemia 222, 258, 387
brachial pressure index 134
contracture 466f
joint 446f
right 344f, 359, 367f
X-ray of 446f
Ankle-brachial pressure index 106f
Ankle-foot orthosis 129, 130, 130f
modified 129, 131f
Anosmia 406
Antacids, phosphate-binding 331
Anticardiolipin antibodies 191
Antidiabetic drugs, oral 77, 90
Antiepileptic drug 307
Antihypertensive agents 208
Anti-müllerian hormone 423
Antiphospholipid antibody 163
syndrome 191, 192
Antiplatelet therapy 136
Antirheumatic drugs, disease-modifying 471
Antithyroglobulin antibodies 20
Antithyroid medications 16f
Antitubercular therapy 160, 293
Aorta 9
Aphakic lenses 99f
Arachnodactyly 451f
Arginine 463
Aripiprazole 433
Arnold's face 473f
Arnold's head 474
Arrhythmias 425
Arterial blood
gas 331
supply 193
Arteritis, temporal 241
disease, peripheral 135f
occlusive disease, peripheral 133, 135f
Arthritis 196f
destructive 425
Articular involvement 196
Artificial prosthesis 137f
Astrocytomas 219
Asymmetric disease 26
antiphospholipid syndrome 191
candidiasis syndrome 19
diabetes 77
disorders 433
hyperthyroidism 20
disease 19
disorders 20
Autonomic failure, hypoglycemia-associated 141
Autonomous adenoma 320
Autopsy 193
Autosomal dominant inheritance 22
Axillas, anterior 455f
Babinski sign, bilateral 188
Back pain, low 328
Bacteria, blood culture for 195
Banana fractures 357
Bardet–Biedl syndrome 435
Basal ganglia 338f
calcifications, bilateral 391f
causes for 390
Basal insulin 147
B-cell lymphoma 214
Beaked nose 443f
Below knee amputation 137
lipodystrophy 93
syndrome 433
Berutti regimen 198
Bifid scrotum 420f
Bifrontal headache 252, 371
Bilateral adrenal
enlargement 157f, 163, 192f
hemorrhage 193f
hemorrhagic infarct 191
hyperplasia 223f, 264
masses 155f, 222
Bilateral breast 400f
enlargement 400, 414
Bilateral femori 379f
Biliary cirrhosis, primary 485
Biochemical evaluation 224t
Biopsy 326f
Birds’ droppings 160
Bisphosphonate 363
therapy 347
Bitemporal hemianopia 243, 278
Bladder 59
drainage, continuous 46
wall, right lateral 206
cultures 42
lipid control 136
picture, peripheral 214
Blood glucose 198
levels 483
monitoring devices 138
self-monitoring of 139
Blood pressure 169, 198, 202, 218
control 136, 216
high 191
low 154
Blood–brain barrier 304
Blue sclera 358f, 381f, 384
Body mass index 95, 432, 437, 443
Boggy skin lesions 449f
Böhler iron 130
Bolus insulin 147
biopsy 350, 350f
cyst, aneurysmal 386
disease 313
infarct 386
marrow biopsy 289, 485
high normal 372f
low 364f
metastases 386, 490
content 329
density 318, 320, 328, 329, 336f, 353f, 364, 372f
mineralization of 331
morphogenetic protein, abnormal 380
multiple 373
osteosclerosis of 353f, 356f
scan 125, 350
pretreatment 305
scintigraphy 361f, 362f, 386f, 389f
temporal 12
tubular 374
tumor, malignant 361
Bone-destructive lesions 316
Bony deformity 363
Bony metastasis, reduces 491
Bony swelling 445f
multiple 445
Borderline hypernatremia 167
Börjeson–Forssman–Lehmann syndrome 435
Bountiful bone 313
Brain 59, 234f, 236, 247f, 288f, 289f, 291f, 293f, 295f
severe traumatic 238f
traumatic 238
Brainstem 186
Breast 222
carcinoma of 296, 448
development of 407, 419
metastasis from 214
tanner staging of 423
Breathlessness 436
Bromocriptine 272
Buried penis 416
Cabergoline 272, 301, 441
high-dose 273
therapy 272
macules 347, 448
spots 252, 253f, 254
Calcaneal pitch 123, 126f
Calciopenic rickets 333
Calcitonin 345
staining cells 61f
Calcium 363
Camurati–Engelmann disease 377
Cancer cells 295f
Candida infections 76
Cannon ball lesion 195f
Capillary system 191
Capital femoral epiphysis 359
Carbonic anhydrase 338
Carboxyl ester lipase 90
Carcinoembryonic antigen 61, 177
Carcinoid tumor 219, 448
Carcinoma 264
history of 304
Cardiac myxomas 257
Cardiovascular anomalies 100
Cardiovascular complications 452
Carney complex 257
Carotid artery
aneurysm of 281, 293
left 269f
regions 211f
right internal 271
Carotid body 209
tumors, bilateral 210f
Carpal bones 374
Carpal tunnel syndrome 17
Carpenter's syndrome 22, 435
Cataract, childhood 99
Caudal regression 100f
syndrome 101
Cavernous sinus 240, 276, 279
left 269, 289
right 271
thrombosis 285
Celiac sprue 485
Central diabetes insipidus 299
diagnosis of 305
partial 288
Central hypothyroidism 289
Central nervous system 100, 186
Cerebellar 186
hemangioblastoma 185
hemangiomas 186f
injury, hypoglycemic 441
signs, negative 475
Cerebellum 185, 441
angiography 293
artery, anterior 247
calcifications 338, 338f
damage 238
demyelination 189
Cerebrospinal fluid 233, 236, 250, 270, 285, 289
lateral 9
lymph nodes 25f, 44
somite anomalies 423
Charcot arthropathy 115, 124f
investigations for 125
Charcot foot 128f, 130f, 132f
acute 131
bilateral 127f
Charcot restraint orthotic walker 129
Chemotherapy 198, 303
Cherubic face 462f
hair, decreased 400
wall, anterior 448f
X-ray of 473f
Cholesterol 458
crystals 298
Chondroitin-6-sulfate 469
Chromaffin tissues 206
Chromogranin 459
Chromosome 1Q211 93
Chronic charcot foot, differential diagnosis for 132
Chronic illness
symptom 373
type of 472
Chunky calcification 365f
Cinereum hamartoma 307
Clavicular dysplasia 382
Claw toe 103f, 110, 110f
Cleft lip 370
Cleft palate 370, 411
Cleidocranial dysostosis 474
Cleidocranial dysplasia 474
Clinodactyly 466f
Clitoromegaly 198f, 201f, 417f
Clivus inferiorly 279
Clonidine 463
Coarse facies 99f
Coast of maine 252
Cobalamin 475
deficiency 475
Cohen syndrome 435
Cohesive cell clusters 200f
COL1A1 gene 357
COL1A2 gene 357
Collagenoma 461, 461f
Colloid 36
carcinoma of 303f
metastasis from 214
Colonic neoplasia 245
Complete renal agenesis 424
Compression fractures 485f
multiple 328f
Conn's syndrome 167
Connective tissues 478
Consciousness, loss of 275
Containing cisplatin 198
Contraceptive pills 417
Cord compression 49f
Corneal leukoma 259
Coronary artery
bypass graft 326
disease 453
Corpus callosum 190f
Corticospinal tracts 190f
Corticosteroids, oral 472
Corticotroph adenoma 279
Corticotropin-secreting tumor 268
Cortisol, urinary-free 264
Costochondral junction 316f
Cough 160
fractures 337
Counterregulatory hormone 459
Coxa valga 469
C-peptide 459
Craniofacial fibrous dysplasia 348f
Craniopharyngioma 281, 297299
Craniosynostosis 181
Craniotomy, medial frontal 299
Creatine phosphokinase 10
Cretinism 369
Crooke's hyaline 260, 264
Crowe's sign 448
Curvilinear peripheral calcification 39f
Cushing's disease 260262, 263f, 264, 268
treatment for 261
Cushing's syndrome 168, 208, 223, 225, 260, 264, 266, 439, 440, 471, 475
face 439, 439f, 471f
habitus 471f
Cutaneous lichen amyloidosis, lesion of 177f
Cutaneous myxomas 257
Cutis vertices gyrate 258, 259
Cyclic adenosine monophosphate 390
Cyst 216f
infection 217
Cysteine 337
Cystic adnexal lesions 480f
Cystic changes 214f
Cystic craniopharyngioma 285
Cystic neck swelling 68f
Cystic papillary serous tumor 223
Cystic parathyroid adenoma 36
Cystic pituitary adenoma 285
Cystic thyroid nodules, majority of 36
Cystic zone 249f
Cystinosis 337
Cystitis 76
Cystoscopy 206
Dactylitis 196f
Darling's disease 158
de Quervain's thyroiditis 15, 43
Deafness 370
Dehydroepiandrosterone sulfate 198, 208
Dental fluorosis 352
Deoxyribonucleic acid 98, 176, 419, 438, 457
Desmopressin, oral 304
Dexamethasone 264
oral 417
suppression test 264
Diabetes 80, 425
bronze 425
complications of 78
foot care in 107
foot in 102, 103
footwear in 107
gadgets in 138
generations of 81f
glucose monitoring in 139
insipidus 232, 241, 256, 279, 290, 296, 304, 387
mellitus 88, 91, 183, 245, 303, 433, 434
type 1 22, 74, 81, 99, 139, 141f
type 2 68, 75, 81, 99, 275, 435
Diabetic foot 102f, 119
Diabetic ketoacidosis
diagnosis of 74
history of 91
Diabolical diabetes 71
Diaphyseal dysplasia 259
Diarrhea 487
Diffuse pancreatic lipomatosis, diagnosis of 96
Dihydrotestosterone 419
Distal humerus, left 350f
Distal interphalangeal joint 110
Distal limb anomalies 434
Distal phalangeal acro-osteolysis 382
Distal renal tubular acidosis 337
management of 337
Diverticula 213
Dizziness 272
Dopamine 209, 272
agonists 270, 272
Doubtful sellar mass 264f
Down syndrome 369, 433
Doxorubicin 198
Dry skin 8f, 297
Duchenne muscular dystrophy 10
Dunnigan syndrome 93
Dysgerminomas 302
Dysmorphic facies 357
Dysphagia 30
lesion-like 448
Dyspnea 30
Dysthyroid 25f
ophthalmopathy 26
Dystrophic nails 443, 444f
Ear cartilage 477
Easy skin bruisability 168
Ecchymoses 269
Echocardiography 487
Ectodermal dysplasia 447
Ectodermal origin tumors 219
Ectopic gland 7
Ectopic parathyroid adenoma 318
Ectopic thyroid 7
type of 9
Eczema 259
Eggshell calcification 33f, 281
Ehlers–Danlos syndrome 451
Elbow joint 367f
left 367f
X-ray of left 180f
Electrolyte abnormalities 100
Elevated blood pressure 209
Elevated serum triglyceride levels 11
Emphysematous pyelonephritis 76
Empty sella
partially 389f
syndrome 234, 250
Encephalitis 241
abnormalities 298
dysfunction 425
outpatient department 466
system 254
tumors 181
Endosteal proliferation 259
Enterohepatic recycling 272
Enzyme tyrosinase 476
Eosinophilia 214
Eosinophilic granuloma, diagnosis of 386
Ependymomas 219
Epidermal growth factor 269
Epiphyseal plate 359
Episode 218
multiple 97
Epithelioid giant cells 15f
Erdheim–Chester disease 305, 306
Erectile dysfunction 269
Erucic acid 189
Eruptive xanthoma 457
crops of 458f
Erythematous 42f
Erythrocyte sedimentation rate 15
Escherichia coli 42, 76
Estimated visceral adipose tissue 437
Estradiol therapy, low-dose 407
Estrogen 398, 407, 417
receptor modulator, selective 328, 399
resistance 418
Ethmoid sinus
left 340
posterior 279
Etoposide 198
Exostosis, multiple 446f
Extracapsular disease 49f
Extragonadal seminomas 302
Extramedullary hematopoiesis 222
Extraocular muscles 24f
Eye 99
disease 23, 24
prominent 381f, 443f
Eyelid erythema 23
Face 406f
hyperpigmentation of 154f
triangular 473f
Facial bones 317
Facial features 445f
Facial hair
absent 359f
growth 425
Facial nerve palsy, left 371
Facial symptoms, development of 251f
Fallopian tubes 403
Familial hypercholesterolemia, diagnosis of 457
Familial partial lipodystrophy syndrome 93
distribution 92f
mass, increased 437f
Fatty hilum 40f
Feet, high-risk 115
Femoral artery occlusion, left 134f
Femoral neck 359
Femoris, proximal 203f
Femur 357f
both proximal 340f
proximal left 386f
with pencil line cortices 357f
X-ray of 373f
right 388f
Ferriman–Gallwey score 466
Fetal growth, impaired 100
Fetal macrosomia 100
Fever 212
Fibrocalculous pancreatic diabetes 78, 80
Fibrocollagenous tissue 222
Fibrodysplasia ossificans 379
Fibroma, nonossifying 341
Fibrositis 17
dysplasia 252, 254f, 347, 348, 386
stroma 350f
Fibula 347f
Fine-needle aspiration 30, 32, 36, 154
biopsy 58
cytology 15, 30, 42, 60, 158, 175
Fingers and toes, shortening of 381f
Fissure 121f, 122f
story 102f
Fixed ankle brace 129, 130
Flash glucose monitoring system 142f
Flattened vertebrae 369
Fludrocortisone 160, 214, 225
Fluoride intoxication, chronic 352
Fluorosis 352
Foamy macrophages 306f
Focal myositis 10
Follicle-stimulating hormone 232, 238, 239, 278, 283, 285, 293, 297, 299, 301, 307, 309, 359, 363, 406, 411, 414, 416, 417, 421
Follicular neoplasm 33
Fontanel, posterior 474f
and hands, X-ray of 382f
care program 136
mycetoma of 132f
ulcers, pathobiology of 102
Footwear, sole of 109f
Forearm, X-ray of 353f
pressure 111f
ulcers 111f
multiple 357
pathological 51f, 490
risk assessment tool 364, 372
Fredrickson classification 458t
Fused labia-like structure 421f
Gadolinium-enhancing mass 209
Gait, abnormal 469
Galactorrhea 239, 406
Galactosemia 337
Gallbladder 9
density 208f
Ganglioneuroma 220
diagnosis of 221
Gangrene 136f
Gastric diverticula 212
Gastrinoma 461f
Gastrointestinal complications 100
Gastrointestinal polyps 254
Gastrointestinal stromal tumor 448
Gastrointestinal tract 184, 222
Gelastic seizures 307
Gene sequencing data 87f, 88f
Genetic disease 181
Genetic disorder 219
Genetic multisystem disorders 435t
Genetic obesity syndromes 435
Genital ambiguity 404, 418
development of 416
external 307
Germ cell tumor 256, 281
Germinoma 302
Gestational diabetes mellitus 86
Gestational trophoblastic disease 195
Giant adenomas 269
Giant cell 154, 306f
idiopathic 291
multinucleated 156f
touton type 305
Giant histiocytes 305
Giant pituitary
adenoma 247
macroadenoma 279
Giant prolactinoma, invasive 269
Giant saccular aneurysm 293
Giant-cell tumor, diagnosis of 173
Giddiness 247
Gigantism 255
Gland 60
hypothalamus 229
parathyroid excision 441
pineal 229
pituitary 229
Glandular tissue
disk of 398
migration of 319
Glibenclamide 86
Glimepiride 77
Glioma, hypothalamic 281
Globulin 214
Glomerular filtration rate 177
Glucagon 463
Glucocorticoid 403
misuse 439
parenteral 232
perioperative 276
therapy, oral 235
Glucokinase mutation 83
Glucometer 138
advantages of 138
limitations of 139
types of 138f
levels, uncontrolled 81
monitoring 141f
sensor 140f
monitoring system 140
continuous 139
Glutamic acid decarboxylase 77
Gluteal cleft 455f
Glycated hemoglobin 483
Glycemic control 80, 86, 136, 198
Glycogen storage, abnormal 74
Glycosaminoglycans 27
Glycosylated hemoglobin 75
Gonadectomy 419
Gonadotroph adenoma 276
Gonadotropin-releasing hormone 307, 413
Gower's sign 10
hypophysitis, causes of 291
inflammation 292f
thyroiditis 15
Graves’ disease 19, 22, 24f, 25f, 26, 27
Graves’ ophthalmopathy 23, 23f25f, 26, 27f
differential diagnosis for 25
Gross cerebellar atrophy 441f
Gross necrosis 250f
Growth factor
fibroblast-like 342
transforming 377
Growth hormone 236, 238, 248, 249, 309, 461
deficiency 219, 250, 359, 462, 464, 464f
dose of 407
releasing hormone 463
Growth plate 359
Gynecomastia 398, 400f, 401, 414, 421
absence of 419
bilateral 398f, 400, 400f, 402f, 414f
causes for 398, 401
clinical images of 402
drug-induced 398
long-standing 398
painful 402f
surgery, history of bilateral 415f
unilateral 398f
Hair loss 19f
Hallux valgus 112, 467
Halo sign 29f
Hamartomas, hypothalamic 307
Hammer toe 110, 110f
Hand, right 17f
Hand–Schüller–Christian disease 305
Hardy's classification system 276
Harris mat assessment 104
Hashimoto's thyroiditis 17, 19, 22, 37f, 38f
Headache 239, 249, 289, 406
chronic 271
episodes of 275
paroxysms of 175
periorbital 208
severe 227
aid in situ 343f
defect 467
loss 97, 343
Heart 9
anomalies, congenital 467
failure 425
failure symptoms, right 487
valves 273
Heel wedges 115
Hemangioma 186f
Hemangiopericytoma 341
Hematologic problems 100
Hematuria 168
episode of 205
painless 185
Hemochromatosis 95
primary 475
Hemodialysis 359
Hemogram 165
adrenal 193
intracystic 217
intratumoral 227
subarachnoid 293
Hemorrhagic infarction 240
Hepatic fibrosis 435
Hepatocyte nuclear factor 90
Hereditary fructose intolerance 337
Hereditary hemochromatosis 425
Heterotopic ossification 379f
HFE gene 425
foot 115f
palate 97, 451, 452f
Hindfoot 122f
Hirsutism 198, 198f
Histiocytes 42, 285
Histiocytosis 288, 305
Histoplasma 160, 162
capsulatum 155, 157, 160
Histoplasmosis 214, 222
capsulatum 159
disseminated 159
Hoffmann's syndrome 10, 11
Holocranial headache 243, 275
Homogentisic acid 477, 478
Hormonal hypersecretion 221
deficiency 241
replacement therapy 236
Hounsfield units 212
HRPT2 gene mutations 327
Human chorionic gonadotropin 301
Human growth hormone 266
Human immunodeficiency virus 157
Human leukocyte antigen 20
Human prolactin 301, 307
Humerus, left 202
Hydrocortisone, parenteral 154, 192
Hyoid bone, level of 66
Hyperaldosteronism, primary 167
Hypercalcemia 441, 490, 491, 492f
Hyperchloremic metabolic acidosis 339
Hypercortisolemia 74, 271
Hyperextensible joints 451, 451f
Hyperglobulinemia 42
Hyperglycemia 74, 75, 141f, 467
Hyperglycemic hyperosmolar nonketotic coma 75
Hyperinsulinemia 433
Hyperinsulinemic hypoglycemia 441
lesion 9, 9f
mass 171f
Hyperlipoproteinemias 458t
Hypernatremia 304
Hyperostosis 371f, 378
Hyperostosis-hyperphosphatemia syndrome 361
Hyperparathyroidism, primary 180, 318, 325
Hyperphagia, history of 436
Hyperphosphatemia 492f
Hyperpigmented ear lobule 478f
Hyperpigmented macule 177
Hyperpigmented plaques 432
Hyperplasia 184, 459
Hypertelorism 466f
Hypertension 168, 206
control of 216
Hyperthyroidism 4
Hypertriglyceridemia 11, 457
Hypervascular lesions, multiple 488f
Hypoadrenal crisis 440
Hypoalbuminemia 483
Hypocortisolemia 233, 283
Hypodense space-occupying lesion 442f
Hypoechoic lesion 256
left-sided 42f
small 421
Hypoechoic thyroid 44
Hypoechoic vascular lesion 209
Hypoglycemia 245, 322, 459, 462, 463
asymptomatic episodes of 142f
Hypoglycemic symptoms 460
Hypogonadism 398, 467
Hypokalemia 198
Hyponatremia 232
Hypophosphatemic osteomalacia 342f
Hypophosphatemic rickets 334f
Hypophyseal stalk 291
Hypoplastic clavicles 473, 473f
Hypoplastic mandible 447
Hypotension 272
Hypothalamic-pituitary-adrenal axis 260, 440
Hypothalamus, region of 308f
Hypothyroidism 425
congenital 5, 12
primary 9, 480
severe 481
Hypovascular myxoid stroma 351f
Ichthyosis 8f
Idiopathic calcinosis cutis 492f
clinical image of 492
Iliac bone metastases 179
Incidental adrenal cysts, treatment of 217
Infections 163
Infertility 100
Infiltrative dermopathy 28f
Inflammatory bowel disease 485
Inflammatory disorders 15
Inflammatory neck mass 68
Inflammatory pituitary lesion 289
Inherited diabetes and deafness syndrome 98
Innominate artery 68
dilatation, right 68f
Insufficiency fractures 198
Insulin 42, 145f
administration 144
deficiency 99
delivering devices 138, 144
gene 90
promoter factor 85, 90
pump 140, 146f
secretion of 459
store 76
syringe 144f, 145
Insulin pen 144f, 145f
device 144
advantages of 145
Insulin resistance 95
assessment of 92
severe 94f
Insulin resistance syndromes
type A 433
type B 433
Insulin therapy 85
intensive 74
Insulinoma 441
Intact parathyroid hormone 325
Intellectual disability 5
Intensity-modulated radiation therapy 299
Interdigital web space infection 113
Intermittent fever, history of 160
Intermittent headache, history of 165
Internal carotid artery 266, 277, 279
Internal jugular vein, left 61f
Interosseous membrane calcification 335f
Interphalangeal joint 17f, 196f, 369
proximal 110
Intervertebral disk calcification 478f
Intracerebral hematoma 241
Intracranial germinomas 302
Intracranial hypertension 288
benign 236
idiopathic 236
Intracranial pressure 232, 236, 276
Intracranial tension 462
Intramuscular myxoma 350
Intramuscular testosterone 309, 421
Intraocular pressures 305
Intrasellar pressure 233
Intravenous analgesics 78
Intravenous fluids, bolus of 74
Intravenous octreotide therapy 196
Irinotecan 303
Iris, nodules in 449f
Ischemic necrosis 241
Itraconazole 160
Jaundice 462
Jaw, osteonecrosis of 330f
aspiration 128
effusion 17
large 347f
movements 366
stiffness 17
Keratinocytes 476
Ketosis 74
Kidney 186, 222
disease, chronic 320, 355, 366
Klebsiella pneumoniae 76
Klinefelter syndrome 411, 413, 414, 416
clinical images in 415
diagnosis of 414
Klippel–Feil anomaly 424
Knee joint 446f
Knock knees 333f
Knosp classification 276
Köbberling syndrome 93
Koch's disease 291
Kocher–Debré–Semelaigne syndrome 10
Kyphoscoliosis 332f, 469
Labia majora, right 419f
Lachrymal gland tumors 26
Lactate dehydrogenase 214
Langer's mesomelic dysplasia 409
Langer–Giedion syndrome 445
diagnosis of 445
Langerhans cell 389
histiocytosis 386, 389
Laron dwarfism 465
Laron syndrome 465
Laryngeal neoplasms 196
Laurence–Moon syndrome 435
Left femur
end of 386f
fracture of 51
Left foot
deformity of 123f
X-rays of 123f
Lentigines, multiple 406f, 409f
Leonine facies 258
Léri–Weill dyschondrosteosis 409
heteroechoic 192
multiple 195f
Letter– Sieve disease 305
Leucine 337
Leukemia 296, 448
Levothyroxine supplements 369
Leydig cell tumors 482
Liddle's test 264
Limbs 92t
Lingual thyroid 9, 9f
Lipemia 457f
Lipemic serum 11f
Lipid-rich adenoma 167f
Lipodystrophic disorders 94
Lipodystrophy 93f
Lipomastia 398
Lipomatous pseudohypertrophy 96
cholesterol, low-density 444
intermediate-density 458
low-density 453, 458
Lips, hyperpigmentation of 188
Liver 59
function test 165, 459
Lmna gene mutations 93
Lobstein syndrome 357
Long bones, deformity of 355f
Looser's zones 336
Loperamide 487
Lower limb 49, 96, 357
right 347
Lucent lesions, multiple 349f
Lumbar spine 46f, 346f
Lumbosacral spine, X-ray of 375f
Lung 222
left 159f
metastasis 58f, 214
parenchyma 178f
upper lobes of 155f
Luteinizing hormone 232, 238, 239, 244, 275, 278, 283, 285, 297, 301, 309, 363, 399, 416, 425, 481
Lymph node 35f
enlargement 66
metastases 48, 49f
normal 40f
Lymphadenopathy 30
Lymphangitis carcinomatosa 303f
Lymphedema, bilateral 8f
Lymphocytes 18f, 42, 285
Lymphocytic hypophysitis 290
diagnosis of 288
Lymphocytic infiltrate, chronic 335
Lymphohistiocytic infiltrate 483
Lymphoma 26, 222, 296
diagnosis of 215
disseminated 214
primary 214
Lymphoproliferative disorders 288
Lytic lesion 59, 347f, 388f
Lytic-sclerotic skull 348f
Madelung deformity 409
Madura foot 132f
Malabsorption syndromes 485
Malleolus, lateral 122f
Mallet toe 110, 110f
Marble bone disease 384
Marfan syndrome 451, 452
Marfanoid body habitus 184
Marfanoid habitus 175, 181, 363
Marie and Sainton disease 474
Masquerades, miscellaneous 429
abdominal 174
adrenal 181
calcified 281f
enhancing irregular 177
heterogeneous 175f, 209
pedunculated 342f
suprasellar 301f
Massive hepatosplenomegaly 487f
Massive thyroid swelling 32f, 37f
Maternal drug ingestion 403
Maturity-onset diabetes of young 81, 89
characterization of 90t
gene defects 83
Mauriac syndrome 74
Mayer–Rokitansky–Küster–Hauser syndrome 418, 423, 424
McCune–Albright syndrome 248, 252, 253f, 264, 347, 349f
Meary's angle 123, 126f
Medial arch support 115f
Mediastinal nodes 52f
Mediastinal widening, anterior 320f
Mediastinum 9, 222
Medical therapy 131
Medullary nephrocalcinosis, bilateral 336f
Medullary thyroid carcinoma 60, 61, 176, 179, 181, 184
Melanocytes 476
Melanoma 296
Melorheostosis 373
Memory, history of loss of 278
MEN1 syndrome 461f
MEN2B phenotype 181
Menin gene 322
Meningioma 219, 296, 302
Menstrual cycles
irregular 432
normal 480
Mental retardation 5, 94, 434, 435, 447
Mercury poisoning 475
Metabolic abnormalities 94, 100
Metabolic acidosis 331
Metabolic disorders 429
Meta-iodobenzylguanidine 169, 170f, 172f, 173f, 175, 175f, 179f, 183, 195, 196f, 203f, 204f, 205, 206f, 208, 208f, 209
scan 209f
therapy 202
Metanephrine level 171
Metastasis 45f, 46f, 173, 296, 303f, 352, 355
Metastatic breast cancer, management of 330
Metastatic disease 53, 179, 204
evaluation of 61
Metastatic neck 52f
Metatarsal pad 110, 111f
Metatarsophalangeal joint 110
Metformin 77, 86, 444
Methylene diphosphonate bone 305
Microadenoma 261f
left 260
Microcellular rubber 105f, 108
footwear 108f, 117f, 118f
Microconidia 155
Microphallus 462
Microsomal triglyceride transfer protein 457
Micturition 206
Midfoot ulcers 114f
Midnight serum cortisol 261
Midshaft femur, right 389f
Midshaft sclerosis, bilateral 362f
Milkman's fracture 336
Mipomersen 457
Miscellaneous disorders 429
Mitochondrial diabetes 99
Mitogen-activated protein kinase 53
Mitotane 198
Mitral valve prolapse 451
Molded shoes 115
Monofilament test 104f
Moon face 260f
Morquio syndrome 369, 468
Mucocutaneous candidiasis, chronic 19
Mucopolysaccharidoses 468, 470f
Mucosa, oral 154
Mucosal hyperpigmentation 154f
Mucosal neuroma 176, 181, 182f
Müllerian duct 423
aplasia 423
Müllerian hormone 423
Müllerian structures 421
Multinodular goiter 4, 29, 56
Multiple dental abscesses 334f
Multiple endocrine
deficiency 19
neoplasia 61, 169, 176, 179, 181, 184, 322, 441, 461
Multiple rib 202, 203f, 350f, 389f
fractures 331f
Multiple tendon xanthomas 454f
atrophy, severe 443f
hypertrophy 11
hypotonia 370
weakness 167, 168
Mutational dysostosis 474
Myalgias 17
Myasthenia gravis 19, 22
Myasthenic syndrome 10
Mycobacteroum tuberculosis, dissemination of 163
Myelolipomas 168
cells 486f
multiple 485
Myocardial infarction 457
Myopathic disorder 10
Myopathy 316
Myopia 370
Myositis 17
Myxedema 17
Myxomas 351
Nasal bridge, depressed 5f
Nausea 191, 272
left side of 65f
mass, congenital 68
nodes, right-sided 44f
Necrolytic migratory erythema 483, 484, 484f
Necrotic tissue 161f
Nelson's syndrome 266, 268, 475
Neoplasms 362
Neoplastic disorders 68
Nephrocalcinosis, bilateral 335, 335f
Nerve root 186
Nesidioblastosis 459
Neural foramina 173f
Neuroblastoma 220
Neuroendocrine tumor 177, 196, 226
Neurofibromas, type of 448
Neurofibromatosis 218, 219, 450f
Neurofibromin 219
Neurofibrosarcomas 219
differentiation 88, 90
symptom 459
Neuroglycopenic symptom 459
Neurotropic tyrosine kinase receptor 54
Neutrophils 15f, 42
NF1 gene 169
Night blindness 434
Nocturnal ventilation 438
Nodular branching 154f
Nodular hyperplasia 225
Nodular lesions, multiple 195f
Nonendocrine organs 254
Nonfunctional pituitary
macroadenoma 279
tumor 250, 281
Non-Hodgkin's lymphoma 214
Nonhomogeneous opacity 303
Non-Langerhans cell 305
Nonlymphocytic leukemias 219
Nonpitting edema 27
Nonsteroidal anti-inflammatory drugs 15, 259, 373
Nonsurgical therapy 129
Normetanephrine 171, 208
Normocalcemia 340
Nyctalopia 434
Nystagmus 411
Obesity 433
Obstructive pulmonary disease, chronic 485
Obstructive sleep apnea 436
Ochronosis 478
Octreotide, long-acting 483
Ocular motility, disorders of 240
Odontoid hypoplasia 469
Odors, types of 411
Odynophagia 157
Olfactory bulb 412f
bilaterally 412f
Oligomenorrhea, history of 239
Oncogenic osteomalacia 342, 342f
Oophorectomy, right-sided 223
Ophthalmopathy 24f, 25f
Ophthalmoplegic migraine 241
Optic atrophy 372
bilateral 384
Optic chiasmal compression 302
Optic glioma 281
Optic nerve 236, 289
Oral contraceptive pills 268, 407
Orbital tumors, primary 26
Ornithine 337
Orphan Annie eye nuclei 46f
Osmotic symptoms 85
Osseous metastases 203f, 204f
Osteitis fibrosa 316
cystica 316
disseminata 252
Osteogenesis imperfecta 357, 358
Osteolytic region 343
Osteomalacia 352, 332f
tumor-induced 341
Osteomyelitis 116f, 135, 361, 362
Osteonecrosis 330, 361
Osteopathia striata 375
Osteopenia 331f, 363f
Osteopetrosis 384
Osteopoikilosis 374
treatment of 374
Osteoporosis 328, 329f, 363, 444, 485
idiopathic juvenile 363
prevention of 419
Osteosclerosis 338f
diffuse 384f
Ovarian hyperstimulation syndrome 481
diagnosis of 480
Ovarian hyperthecosis 482
Ovarian mass 223, 480
Ovarian steroid cell tumors 482
Overnight dexamethasone suppression test 260
Oxidized glutathione 476
Pachydermoperiostosis 258
Paget's disease 337, 343, 345, 352, 355, 384
juvenile 361
causes 373
debilitating 491
severe 490
Palmar creases 154, 154f, 163f
Palmar freckling 449f
Palmar xanthoma 457, 458f
Palpable gonads 419
bilateral 405f
Palpation, abdominal 206
Palpitation 175, 191
paroxysms of 171
Pancreas 9, 96, 186, 442f
multiple cysts in 185f
parts of 80
Pancreatic cysts 185
multiple 187
Pancreatic duct 80f
Pancreatic enzyme supplements 95
Pancreatic inflammation 78
Pancreatic parenchyma, replacement of 95
Pancreatitis, acute 318
Panhypopituitarism 299
Paper grip test 105f
Papillae 67f
carcinoma 51
craniopharyngiomas 298
thyroid cancer 45, 53, 59
Papular lesions, multiple 160
Paragangliomas 203
left 226
Parahypothalamic region 307
Paralytic ileus 227
Paraneoplastic polyarthritis 196
Pararenal fascia 75
Parasellar region 267f
disease 313
hormone 316, 318, 340, 355, 361
hyperplasia 320
scintigraphy 321f, 322, 326f
tissue 319f
Parathyroid adenoma 183, 183f, 184, 324
diagnosis of 318
right 183f, 321f
inferior 320
Parathyroid carcinoma 327
primary 326f
Parathyroid gland 322
region 323f
Parathyroidectomy 320
right 184
Parental consanguinity, history of 417
Paresthesias, painful 97
Parietal bones 252
Parinaud syndrome 302
Pars tuberalis 283
Patchy osteosclerosis 335f
Patellar tendon 131f
bearing orthosis 130
modified 130f
Patrick Yesudian sign 449f
PAX4 gene 89
PDX1 gene 85
Pectus carinatum 371, 452f, 468f, 469
Pectus excavatum 448f, 452
Pedigree chart 83, 85, 86f, 88, 89f, 91f
Pelvic bone 202, 203f, 490f
Pelvis 205f, 317, 374
anteroposterior 332f
X-ray of 360f, 367f, 368f, 446f, 478f
Pemberton's sign 42, 60, 60f
positive 32f, 38f
Penoscrotal hypospadias 420f
Percutaneous radiofrequency thermal ablation 483
Periodic acid-Schiff 160
Periodontal disease 258
Periosteal proliferation 259
Periosteal reaction 361f
Periventricular region 188f
Personal genome machine 82
Pes cavus 114, 115f
Pes planus 114
Pheochromocytoma 165, 169, 173, 181, 182f, 184, 203, 206, 208, 220, 226, 448
adrenal 209
diagnosis of 206
right 185
levels 365
solution, oral neutral 334f
Phosphaturia 318, 341
Phosphaturic mesenchymal tumor 341, 342f
Phosphopenic rickets 334
Pinch test 109f
Pituitary abscess 285
Pituitary adenocytes 250
Pituitary adenoma 240f, 248, 250, 269, 293
functional 276
with apoplexy 240f
Pituitary adenomectomy 261
Pituitary apoplexy 242, 242f, 249, 266, 285, 293
Pituitary autoantibodies 290
Pituitary dysfunction 293
Pituitary gigantism 248
Pituitary gland 12, 235, 260, 261f, 262f, 264f, 269, 289, 290f, 296, 304
anterior 296
autoimmune inflammation of 290
normal 240
posterior 296, 304, 309
small 425, 426f
Pituitary hormone
concentrations 238
deficiency, signs of multiple 462
dysfunction 288
secretion 238
Pituitary hyperplasia 12
Pituitary hypofunction 285
Pituitary insufficiency 403
Pituitary macroadenoma 246f, 249f, 256f, 276, 281
Pituitary metastases 296, 304
Pituitary microadenoma 223, 263f, 441f
Pituitary passions 229
Pituitary pseudotumor 12, 14
Pituitary region 295f
Pituitary stalk 298
interruption syndrome 309
thickening 288
Pituitary stone 281, 297f
Pituitary surgery 232
Pituitary thyrotroph hyperplasia 14
Pituitary tissue 272
normal 223, 250
Pituitary tumor 261, 268, 304, 322
Pituitary-thyroid axis 236
Plantar pressure assessment 104
adrenocorticotropic hormone 198
cells 42, 163, 285
glucose 459
random 75, 441
Plasmacytoma, X-ray in 486
Plaster of Paris 117f
Platelet destruction, peripheral 179
Platyspondyly 469
Podiatrists 107
Polyarthritis 196
Polycystic ovarian syndrome 433
Polydipsia 303, 305
Polyglandular autoimmune syndrome 10, 77
Polygonal tumor cells 459
Polyuria 303, 304
Poor glycemic control 97
Porphyria 475
Portable infrared dermal thermometry 128
Postacute phase 129
Post-meta-iodobenzylguanidine 203f
Postpartum hemorrhage, history of 234
Postpartum pituitary necrosis 235
Post-Synacthen stimulation test 188
Post-thyroidectomy scar 181f
Post-traumatic panhypopituitarism 238
Potassium, normal 266
Prader-Willi syndrome 435, 438, 438f
Preablation iodine 22
Prednisolone 225, 279, 290, 305, 309
oral 252
Pre-Synacthen adrenocorticotropic hormone 191
Pretibial myxedema 27f
Progesterone pill 417
Progressive proximal myopathy 316
PROK2 genes 413
Prolactin 238, 269
secretion 269
Prolactinoma 245, 269, 274, 441
Prophylactic thyroidectomy 180
Propranolol 463
bilateral 305f
symptoms of unilateral 16f
unilateral 26f
Prostate 296
Prostatic cancer 491
C 191
S 191
Proteinuria 222
nephrotic-range 216
Proton pump inhibitor 78, 401
Proto-oncogene mutations 176
Psammoma body 49f
Psammomatous melanotic schwannoma 257
Pseudoachondroplasia 369
Pseudofractures 336, 337
diagnoses for 337
Pseudogynecomastia 398
Pseudohyponatremia 75
Pseudohypoparathyroidism 435
Pseudotumor cerebri 236
Psychiatric disorders 99
asymmetric bilateral 22f
bilateral 19f
recovery of 242f
Pubertal growth spurt 462
Pubertal gynecomastia 398
Pulmonary artery dilatation 452
Pulmonary disease 100
Pulmonary infection 163
Pulmonary valve regurgitation 487
Pyknodysostosis 381, 382
Quadriparesis, recurrent 335
Rabson-Mendenhall syndrome 433
Radiation therapy, postoperative 270
Radiofrequency ablation 327f
Radionuclide therapy 209
Rathke's cleft cyst 281, 283, 285
Rathke's pouch 283
Recurrent episodes of syncope 441
Red blood cells 240
Refractory seizures 307
Regular menstrual cycles 318, 417
Rehabilitation 238
Renal carcinoma, right 187f
Renal cell carcinoma, low risk for 186
Renal complications 100
Renal cyst 86f
bilateral multiple 185f
multiple 185f
Renal disease, end-stage 317
Renal dysplasia 423
Renal focal segmental glomerular sclerosis 98
Renal function
normal 347
tests 165
Renal images, absent 352
Renal involvement 434
Renal mass, bilateral 185
Renal osteodystrophy 352, 355
treatment of 355
Renal pelvis 76
Renal tubular acidosis 337f, 352, 355
Reproductive adnexal organs 186
Residual pituitary
adenoma 266
function, normal 250
lesion 244f
Residual tumor 266, 267f
management of 299
Resistant rickets 333f
Respiratory tract infections 445, 447
RET gene 169
Retina 186
Retinal detachment 370
Retinal hemangioblastomas 186
Retinitis pigmentosa 435
Retroareolar fat tissue 400f
Retrobulbar neuritis 241
Retroperitoneal sarcoma 220
Rhabdomyolysis 10f
Rhabdomyosarcoma 219, 448
Rheumatic diseases 17
Rheumatoid arthritis, juvenile 471
Rheumatoid factor 17
Rhinorrhea 233
Rib 317
lower 468f
metastasis to 180f
osteopenic 331f
tumors in 325f
foot deformity 125, 127f
sole 112f
anterior 111
Round-to-spindle cells 342f
Rubinstein-Taybi syndrome 435
Rugger-Jersey appearance 352
Rupture 217
Sabouraud's dextrose agar 162
Sacral bone, right 200f
Sacral metastasis 46f
Sacrum 173, 374
right 198
Sandwich appearance 384f
Sanger's sequencing chromatogram 82f, 84f, 87f, 88f, 93f
Sarcoidosis 26, 288
Scalp hair, loss of 443f
Scheuthauer–Marie–Sainton syndrome 474
Schmidt's syndrome 22
Sclera 477
Sclerosis, extensive 352f
Sclerosteosis 372
Sclerotic clusters, multiple 374f
Sclerotic lesion 347f, 386f
Scooped insole 119f
SDHAF2 gene 169, 203
SDHB gene 169
mutations 174
SDHC gene 169
SDHD gene 169
Secreting pituitary
adenoma 256
macroadenoma 244
Sella turcica 236, 295
mass 276
Sella, J-shaped 468f
Sellar aneurysm 293
Sellar extension 296
Sellar fossa 245f
Sellar mass 14f, 249, 275f, 285, 301f
Sellar regions 278f, 281f
Semmes–Weinstein monofilament test 103
Sensors, types of 105
Sensory testing, quantitative 103
Septate mass, large 43f
Sertoli cell tumor 257
Sertoli–Leydig cell tumor 482
albumin 390
aldosterone 167
alkaline phosphatase 338, 491
elevation of 320
calcitonin 177
calcium 183, 320, 355, 361, 363, 365, 390
normal 347
cortisol 198, 214, 260, 261, 269, 276, 299
creatinine 216
growth harmone 465
human prolactin 232, 234
insulin 244
luteinizing hormone 400
phosphate 183
phosphorus, low 340
sclerostin 372
testosterone 283, 293, 411, 419, 482
thyroglobulin 47
estimation 45
Sestamibi-parathyroid 322f
Sex development, disorder of 421
Sexual characters, secondary 473
Sexual differentiation, disorder of 395, 418
Sexual dysfunction 289
Sexual maturity 307
Sheehan's syndrome 234, 235
Short stature 5, 12, 12f, 16f, 403f, 436f, 467, 469, 471f
SHOX gene 409
Sickle cell
crisis 361
preparation 361
Silver methenamine 160, 161f
Simultaneous serum insulin 459
Single cell type 240
Sinus 261
absent frontal 474f
sphenoid 279
thrombosis 241
Sinusitis, sphenoid 285
Sistrunk's operation 51
Sjögren's syndrome 17, 335, 337
Skeletal deformities 452, 470f
Skeletal diseases 339
Skeletal fluorosis 352, 355
Skin 9, 59, 222
changes 4
hyperpigmentation 475
lesion 432
rash 387
temperature 107
and humerus, X-rays of 383f
and neck swellings 58f
X-ray of 382f
SLC29A3 gene 467
Slipped capital femoral epiphysis 359
Small cell lung cancer 490
Smoking cessation 136
Snake bite 359f
and skin 244
calcification 444, 444f
density mass 63f
enhancing 202
swelling 365f
Solid right adnexal lesion 482f
Somatostatin receptor-positive neuroendocrine tumor, treatment for 204
Sparse pubic hair 401f
Speech, discomfort in 157
Sphenoid bone, right 388f
Spiking fever 42
Spinal cord 186
compression 490
Spinal ligament, anterior 352, 352f
Spine 186f, 335f
termination of 101
X-ray of 328f, 332f, 379f
Spironolactone 401
Spleen, hyperplasia of 254
Spondyloepiphyseal dysplasia 369, 370
congenita 370
treatment of 370
Squamous papillary 299
Stalk thickening 288
Staphylococcus species 43
Steatorrhea 78
Stereotactic radiosurgery 245, 252, 299
and fludrocortisone replacement 191
cell tumor 482
oral 439
Stiffness 370, 373
Stomach 212
Streptococcus species 43
Stretched penile length 416
Subcapsular plexus 193
Subhyoid complex cystic lesion, midline 66f
Submental neck swelling 66f
Succinate dehydrogenase 210
Sudden unexplained deaths 202
Sulfonylureas 81
Supra sternal notch 4, 47, 49, 52
Suprapubic region 201f
Suprarenal mass
left 226
right 172f, 209f
Suprarenal region
left 168f, 170f, 216
right 170f, 172f, 175f, 218f
extension 275f, 296
mass 249, 285
region 278f, 281f, 297
Suprasternal notch 46
Supratentorial hemangioblastomas 186
Supraumbilical region 201f
Surgical therapy 131
Suspicious pituitary microadenoma 223f
Swelling 27, 361
multiple 35f
subcutaneous 379
Sympathetic ganglia 169
Sympathetic nerves 206
Symptomatic tumors 168
Syndromic diagnosis 322
Syringes 144
Systemic sclerosis 492f
Tall stature 414f
Tarsal bones 374
Technetium bone 354f
Technetium-99m bone scan 127f
discoloration of 358f
irregular 447
mottling of 352f
radiography of 358f
Tenderness 361
Tendinous xanthoma 453
Tendon xanthoma 453, 457
Teratoma, adrenal 220
Teriparatide 328
Terrific thyroid 1
Testes, left 256, 257f
Testicular tissue 421
Testicular tumors 398
Testosterone 198, 269, 293, 399, 433
levels 404
therapy 413
Tetracycline 355
Thiamine 441
Thoracic spine 477, 485f
X-ray of 468f, 478f
Thoracic vertebra 49
Thoracolumbar spine 369, 485
Thorax 155f, 180f
Thrombocytopenia 179, 387
Thyroglossal cyst 7, 66, 67
Thyroid 15f, 32f, 36f, 39f, 40f, 47f, 57f, 175, 222
acropachy 28f
anlage 9
architecture, normal 18f
bed 7
carcinoma of 177
cartilage 67
deficiency, long-standing 12
dermopathy 28f
disease, clinical variations in 8
Doppler studies of 41
illnesses, diagnosis of 43
left lobe of 4f, 43f, 44
lobectomy 63
malignancies 41f, 65, 65f
mass, right 64f
nodule 33f, 39f, 43
normal 39f
papillary carcinoma of 49f, 67, 67f
parenchyma 42
region 45
right lobe of 29, 36
scintigraphy 5, 6f, 7f, 49f
surgery, old 181
tumor 45
ultrasonography of 38
ultrasound of 36f, 40f
whole body 57f
Thyroid cancer 53, 63
differentiated 63
management of 56
Thyroid function 266
test 66, 266, 269, 278, 307
Thyroid gland 1, 15, 42, 67, 320
large 32
normal 66f
Thyroid hormone
free 276
replacement 12
suppression 45
Thyroid swelling 29, 29f, 37, 42, 60f, 63f
bilateral 37f
diffuse 17f, 38f
malignant 35
unilateral 37f
Thyroid tissue 33
normal 65
completion 184
probable subtotal 32, 181
right 176
total 45, 51, 61
acute suppurative 42
chronic 4
Thyroid-stimulating hormone, 7, 12, 14, 15, 17, 20, 47, 232, 238, 239, 244, 278, 283, 291, 299, 307, 444, 475, 480
Thyroidzectomy 56
Thyrotoxicosis 475
Thyrotropin-releasing hormone 269
Thyroxine 12, 252, 279, 281
levels, total 7
low free 7
oral 271, 299
replacement therapy 406
supplementation 302
withdrawal 45, 47
Tibia 347f
expansile lesion in 350f
left 361f, 373f
midshaft of 377f
Tibial cortex 337f
affected 305
responses, types of 155
cap 110f
separator 113f
sleeve 110f
Tongue 66, 157f, 159f
enlargement 243, 258f
lesion, biopsy of 159
mucosal neuroma of 181f
protrusion of 65f
Tonic-clonic seizures 295
Total contact cast 119
Total pancreatic lipomatosis 96
Toxic metabolites 210
Trachea 60f, 63
Tracheal invasion 61
Transcutaneous oxygen measurement 136
Transmetatarsal amputation 137f
Transsphenoidal adenomectomy 264
Transsphenoidal surgery 270
Trauma, history of 443
Trichorhinophalangeal syndrome 445
Triglycerides 458
Triiodothyronine 239, 299
Tru-cut biopsy 65f
Truncus arteriosus 424
Trunk 92t
Tuberculoid granulomas 155
Tuberculosis 195, 214, 222, 289
Tuberous xanthoma 453
Tumor 262f
benign 168, 220
brown 320
cells 206f
growing 168
multiple brown 321f
primary 204f
proliferative index 279
resection, laparoscopic 206
gene 210
protein 322
with liver, primary 203f
Tumoral calcinosis 365, 366, 367f
X-ray in 367
Turner stigmata 421
Turner syndrome 408f, 418
clinical images in 408
diagnosis of 406
activates 476
catalyzes 254
Tyrosine, hydroxylation of 254
Tyrosinemia 337, 478
Ulcer 102f, 114f, 157f
forefoot 109
healed 119f, 122f
hindfoot 115, 116f, 121f
midfoot 113
nonhealing 118f, 120f, 134f
oropharyngeal 158
pathophysiology of 102f
stump with 137f
trophic 135f
Upper arm, right 448f
Upper limb 136f
Ureteric orifice, right 206
Urinary bladder 205f
Urinary catecholamine 209
Urinary cortisol 260
Urinary metanephrine 206, 218, 226
normal 208
Urinary osmolality 303
Urinary tract infections 75
Urine 75, 477f
catecholamines 176
culture 76
metanephrines 176
development 407
transplant 423
Uterus 403
absent 423
Vagina 403
Vaginal depth, correction of 419
Valvulopathy 273
van Buchem disease 372
Vanillylmandelic acid 205
Vascular lesion, large 195f
Vascularity, peripheral 33f, 41f
Vertebra 352, 375f, 490f
anterior 468f
Vertebral body 344f
collapse 49f
Vertebral fracture assessment 363
Vertebral metastasis 52f
Very low-density lipoprotein 458
VHL gene 169
Virilizing tumors 482
diminution of 301
worsening of 237
Visual acuity 278
Visual defects 406
Visual deterioration 243
Visual disturbances 249
Visual evoked potential 188, 384
Visual field 240, 299
symptoms 299
Visual impairment, severe 241
Visual symptoms 298
B1 441
B12 95, 441
deficiency of 475, 476
C, hyperdose of 478
deficiency 320, 331, 332
injection 78
insufficiency 473
supplementation 333f, 352
Vocal cord dysfunction 30
Voglibose 77
Vomiting 191, 208, 239, 247, 275
von Hippel–Lindau disease 185
von Recklinghausen's disease 316
Voorhoeve syndrome 375
Weight gain 22, 160, 208, 269
progressive 220
Weight loss 212
unintentional 163
Werner syndrome 444
Wernicke's encephalopathy 441
Wolffian ducts 423
Wrist, X-ray of 308f, 471f
X chromosome, abnormal 406, 414
Xanthelasma 457
bilateral 457f
Xanthoma tuberosum 453
Zellballen appearance 172f, 173f
Zinc deficiency 484f
Zoledronic acid 343, 357, 365
Chapter Notes

Save Clear

The Terrific ThyroidChapter 1

Thyroid Gland and Related Disease
zoom view
‥Who would believe that there were mountaineers dewlapped like bulls, whose throats had hanging at ‘em, wallets of flesh‥
—Shakespeare, The Tempest (Act 3).
(This is an authentic description of the inhabitants of the Italian Alps, who had large iodine related goitres in the 16th century)2
The thyroid is present in front of the neck,
The hormones produced are more than a speck,
A dwindling of levels can make you quite cold,
Cancerous swellings are in the young and the old.
The larger the gland it may stifle your voice,
Gets stuck to the trachea—leaves surgery the choice,
At times on removal,
the calcium may drop,
Take vitamin D and spasms will stop.
A 2-year-old girl presented with swelling under her chin from the age of 6 months. The swelling was insidious in onset, painless and gradually progressive in size. It was not associated with any discharge or skin changes. The child did not have any intraoral complaints. A 2 cm by 1 cm firm, nontender and mobile swelling was detected in the left submental region at level 1A. The skin over the swelling was normal and the swelling was not bidigitally palpable. The thyroid gland was not palpable. Ultrasound of the neck was done and images are displayed below.
Laboratory test showed a normal thyroid functions. An Ultrasound scan of the neck showed an absent left lobe of the thyroid with multiple enlarged lymph nodes in level 2, 3, and 4 (Figure 1).
Subsequently, a thyroid uptake study was done which showed a normal right thyroid lobe, with agenesis of the left lobe (Figure 2). There was no evidence of functioning thyroid tissue in the submandibular swelling. The patient has been on regular follow-up with regular thyroid function tests.
zoom view
Figure 1: Ultrasonography of neck showing an absent left lobe of thyroid.
zoom view
Figure 2: Radioiodine uptake study showing an absent left lobe of thyroid (shown with arrow).
(SSN: Supra Sternal Notch).
Thyroid hemiagenesis is a rare embryological condition resulting from the developmental failure of one thyroid lobe. It is seen predominantly in females in a ratio of 3:1.1 Most patients diagnosed with this disorder have an associated pathology in the remaining thyroid lobe, including benign adenoma, multinodular goiter, hyperthyroidism, chronic thyroiditis, and rarely carcinoma. The most common pathology involved in thyroid hemiagenesis is hyperthyroidism.2 The molecular mechanism behind hemiagenesis of thyroid has not yet been described in detail. But, a mouse model with Shh-/- mutation showed hemiagenesis of the thyroid or of a nonlobulated gland. Hemiagenesis was also seen in mouse model with a double heterogeneous mutation of Pax8+/- and Tif+/+3. The presence of carcinoma in a patient with hemiagenesis is quite rare and only a few cases have been reported in the world literature.
  1. Shaha AR, Gujarati R. Thyroid hemiagenesis. J Surg Oncol. 1997;65;137–40.

  1. 5 Macchia PE, Fenzi G. Genetic defects in thyroid hormone synthesis and action. In: Jameson JL, Groot LD (Eds). Endocrinology: Adult and Pediatric. Philadelphia: Saunders Elsevier;  2010. P. 1723.
A young girl, 15 years of age, at present studying in 6th grade was brought by her mother for the evaluation of short stature. On clinical examination, she had a puffy face with a depressed nasal bridge. She also had dry, yellowish discoloration of skin. She was short stature and was mentally challenged (Figure 1). Her height was less than the third centile for her age.
Radiographic evaluation revealed a bone age that was markedly delayed (presence of only two carpal bones), of 3 years (Figure 2).
Thyroid scintigraphy was done (Figure 3) and showed no tracer uptake in the neck in the region of thyroid but abnormal tracer accumulation was seen in the suprahyoid region.
This patient has congenital hypothyroidism (CH) associated with an ectopic lingual thyroid gland. The other hormonal axes in this patient were normal. The patient was started on oral thyroxine and has been kept on regular follow-up ever since.
zoom view
Figure 1: Clinical features of short stature and a depressed nasal bridge.
Congenital hypothyroidism is one of the most common treatable causes of intellectual disability (mental retardation). Screening programs have been established in most developed and developing countries to detect and treat this disorder. Primary CH screening has been shown to be effective for the testing of cord blood or heel prick blood collected during the delivery, although the best “window” for testing is 3–5 days of age. Blood is spotted onto special filter paper (known as Guthrie cards), allowed to dry, and eluted into a buffer for thyroid-stimulating hormone (TSH) analysis. Normally serum TSH levels rise after birth (up to 60 μU/mL with the previous TSH assays) and falls less than 10 μU/mL after 48–72 hours. So a TSH level of up to 8–10 μU/mL can be considered as normal up to 12 week of infancy. With the newer assays TSH values are considered significant for the diagnosis of CH when it is around 20–25 μU/mL. The dose of thyroxine is as follows depending upon the age of the patient.
  • 0–3 months: 10–15 µg/kg orally once per day
  • 3–6 months: 8–10 µg/kg
    zoom view
    Figure 2: X-ray of the hands showing bone age of 3 years.
    zoom view
    Figure 3: Thyroid scintigraphy.
  • 6–12 months: 6–8 µg/kg
  • 1–5 years: 5–6 µg/kg
  • 6–12 years: 4–5 µg/kg
  • 12 years or later: 2–µg/kg
  • Patients in which growth and puberty are complete: 1.6 µg/kg orally once per day.
The Indian Academy of Pediatrics and the European Society for Paediatric Endocrinology recommend measurement of serum T4 or fT4 and TSH at 2 weeks after the initiation of L-T4 treatment, and every 2 weeks until serum TSH level is normalized. Subsequently every 1–3 months during the first 12 months of life, followed by every 2–4 months between 1 year and 3 years of age. A follow up once in 6–12 months thereafter until growth is complete is necessary. If a dose of thyroxine is changed with a visit, a review visit should be done in a 2 weeks’ time.1,2
  1. Léger J, Olivieri A, Donaldson M, et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014;99(2):363–84.
  1. Desai MP, Upadhye P, Colaco MP, et al. Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique. Indian J Med Res. 1994;100:36–42.
A 16-year-old boy, studying in 10th grade, presented with short stature and the boy was concerned about the same. He was born to nonconsanguineous parents, at term, by cesarean section, with a birth weight of 2.35 kg. He had neonatal jaundice for 5 days which eventually subsided. His mother gave a history of delayed milestones and had noticed that he was lagging behind his peers in height from the age of 10 years. There was no history of headache, visual disturbance or glucocorticoid usage. His academic performance was below average.
On physical examination he was found to be of short stature with a height of 124.5 cm (less than the 3rd centile) with an expected height of 153 + 6.5 cm. Clinically, there was no goiter. He did not have prepubertal testes and his pubic hair was of Tanner stage 4.
He had a thyroid-stimulating hormone (TSH) level of 750 mIU/L with low free thyroxine and total thyroxine levels. He subsequently underwent a thyroid uptake study and images are displayed above. Tc-99m thyroid scan shows 2 areas of tracer uptake: at base of tongue and in the midline of the neck above the thyroid bed. It is suggestive of congenital hypothyroidism with ectopic thyroid in lingual and suprahyoid regions (Figure 1).
Ectopic thyroid is a rare developmental anomaly of the thyroid gland which is defined as the presence of thyroid tissue at a site other than the pretracheal area. In most cases, ectopic thyroid is located along the embryologic descent path of migration as either as a lingual thyroid or a thyroglossal duct cyst (TGDC).1 A lingual thyroid is the most common presentation of ectopic thyroid. In 70% of cases of ectopic thyroid, the normal thyroid gland is absent and this ectopic gland is the only functional thyroid tissue.2 Nearly 1–3% of all ectopic thyroids are located in the lateral neck.
zoom view
Figure 1: Thyroid scintigraphy.
  1. Desai MP, Upadhye P, Colaco MP, et al. Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique. Indian J Med Res. 1994;100:36–42.
  1. Boyages S, Halpern JP, Maberly GF, et al. Effects of protracted hypothyroidism on pituitary function and structure in endemic cretinism. Clin Endocrinol (Oxf). 1989;30(1):1–12.
An 18-year-old girl presented with history of lethargy and easy fatigability along with complaints of difficulty in swallowing since 7 months. On examination, she had dry skin and her reflexes were slow. She was of normal stature. She was found to have a small mass in the midline at the base of her tongue (Figure 1). She did not have a palpable goitre. Examination of the neck revealed no palpable thyroid gland in the normal pre-tracheal position. Her clinical examination was negative for features of any other polyglandular endocrinopathy. An MRI of the neck showed a hyperintense lesion at the base of the tongue (Figure 2). Biochemical evaluation showed a TSH of 52.1 μIU/mL, total T4 of 2.8 μg/dL and free T4 of 0.50 ng/dL. Antithyroid antibodies were negative and other biochemical investigations were unremarkable.
She was diagnosed with lingual thyroid and primary hypothyroidism. She was started on levothyroxine 100 μg/day and has been on regular follow up since then.
zoom view
Figure 1: Lingual thyroid (shown with an arrow).
It is well known that the thyroid gland descends from the foramen caecum at the base of the tongue. Lingual thyroid is an ectopic thyroid tissue seen in the base of tongue caused due to aberrant embryological development. The differential diagnosis for lingual thyroid should include vascular tumors, telangiectatic granuloma, teratomas, and benign or malignant swelling in the posterior region of the tongue. Lingual thyroid is the most common type of ectopic thyroid, accounting for 90% of cases, whereas sublingual, thyroglossal, laryngotracheal, and lateral cervical types are less frequently encountered‥ Thyroid tissue can also be found, extremely rarely, in remote structures that were associated with the thyroid anlage during development, including the esophagus, mediastinum, heart, aorta, adrenal, pancreas, gallbladder, and skin.1,2
zoom view
Figure 2: MRI of the neck showing a hyperintense lesion at the base of the tongue (shown with an arrow position).
  1. Senthilraja M, Rajan R, Kapoor N, Paul TV, Cherian KE. An uncommon cause of dysphagia. J Family Med Prim Care. 2019;8(3):1282–83
  1. Massine RE, Durning SJ, Koroscil TM. Lingual thyroid carcinoma: A case report and review of the literature. Thyroid. 2001;11:1191–6.
10CASE 5
A 21-year-old gentleman was referred to our thyroid clinic with a history of progressive proximal muscle weakness, muscle pain, and fatigue after minimal exercise. He complained of swelling of the calf muscles over the past few years and constipation.
On general examination, he had puffiness of the face, slowness of speech, and hypertrophy of the calf muscles bilaterally (Figure 1). Gower's sign was negative. He had a positive hung up ankle reflex. He had no palpable swelling in the neck and his oral cavity was normal. He did not have any other stigmata of polyglandular autoimmune syndrome type II (PGA-II) (Figures 1A and B).
Laboratory tests including muscle biopsy showed features of rhabdomyolysis (Figure 2), creatine phosphokinase (CPK) 1500 U/L (25–90 U/L).
This gentleman was diagnosed as having primary hypothyroidism with Hoffmann's syndrome. Hoffmann's syndrome should be considered with other differential diagnoses (Becker's, Duchenne muscular dystrophy, amyloidosis, and focal myositis) when a patient with calf muscle hypertrophy is evaluated and a myopathic disorder is suspected, since it is treatable and mostly reversible.
The patient was put on replacement therapy with levothyroxine, started from 25 µg/day and increased to 100 µg/d. After this, the patient noticed improvement of his symptoms within 4 weeks.
zoom view
Figures 1A and B: (A) Clinical features suggestive of hypothyroidism and (B) Pseudohypertrophy of calf muscles.
Myopathic changes are seen in 30–80% of patients with hypothyroidism. There are four variants of hypothyroid myopathy which are Hoffmann's syndrome, Kocher–Debré–Semelaigne syndrome, an atrophic form and a myasthenic syndrome. Hoffmann's syndrome was first described by Johann Hoffmann in 1897.
Hoffman's syndrome is an uncommon form of hypothyroid myopathy seen in adults with long standing untreated hypothyroidism. It is characterized by proximal limb muscle weakness and muscle pseudohypertrophy (Figure 1B). Patients present with muscle cramps, muscle stiffness, weakness, hyporeflexia, and delayed deep tendon reflexes. Muscle pseudohypertrophy is a very rare presentation and its etiology remains controversial.1 The gastrocnemius muscle is almost always involved. Postulated mechanisms for muscle pseudohypertrophy include an increased deposition of glycosaminoglycans, with increased muscle fiber size and number. Elevation of the serum CPK level is seen in 70–90% of patients with hypothyroidism indicative of muscle involvement but does not correlate with the severity of weakness. Electrophysiological studies may show myogenic, neurogenic or mixed patterns in hypothyroid myopathy. Biopsy of the affected muscles may show muscle fiber necrosis, atrophy, hypertrophy with increased number of nuclei and increased connective tissue (Figure 2).
zoom view
Figure 2: Muscle biopsy showing localized rhabdomyolysis (shown with an arrow).
zoom view
Figure 3: Lipemic serum.
Muscle hypertrophy with weakness and slowness of movement in cretin children is called as Kocher–Debré–Semelaigne syndrome. The absence of painful spasms and pseudomyotonia differentiates this syndrome from Hoffmann syndrome.2
The blood sample of the patient mentioned above was centrifuged. The serum turned milky white as shown (Figure 3).
The milky white serum was seen due to elevated serum triglyceride levels (1800 mg/dL). In primary hypothyroidism there is a reduction in activity of lipoprotein lipase which then in turn causes hypertriglyceridemia. The mechanism of hypercholesterolemia is explained by a reduction in LDL-cholesterol hepatic receptor activity due to hypothyroidism.
  1. Udayakumar N, Rameshkumar AC, Sirinivasan AV. Hoffmann syndrome: presentation in hypothyroidism. J Postgrad Med. 2005:51(4):332–3.
  1. Vasconcellos LF, Peixoto MC, de Oliveira TN, et al. Hoffmann's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Arq Neuropsiquiatr. 2003:61(3B):851–4.
12CASE 6
A 43-year-old gentleman presented with headache of 3 years duration, failure to gain height from the age of 8 years, underdeveloped secondary sexual characteristics and mental retardation.
On examination, he was disproportionately short statured with a height of 132 cm (<3rd centile) with an upper segment and lower segment ratio of 1.2:1 suggestive of shortened limbs. He looked dysmorphic, with prominent temporal bones and hypertelorism. He did not have a palpable thyroid gland (Figure 1A).
On biochemical evaluation, his thyroid-stimulating hormone (TSH) level was 775 µIU/mL with a T4 of 1.7 ng/dL. Other hormonal studies were normal. Radiology of the left hand revealed a bone age of 12 years (Figure 1B).
Computed tomography (CT) scan of the head was done, which revealed a sellar mass of the size 7.1 × 5.9 × 4.2 cm with supra sellar extension into the third ventricle causing obstructive hydrocephalus (Figures 2A to D, shown with an arrow).
The presence of short stature, with intellectual disability, led to the clinical suspicion of congenital hypothyroidism (CH). His 131I uptake study was 0.3% which was grossly reduced, thereby suggestive of thyroid hypoplasia and confirmed the diagnosis.
The possibilities considered were nonfunctioning pituitary macroadenoma or a craniopharyngioma or a pituitary pseudotumor which could have been caused by long-standing untreated primary hypothyroidism.
He was started on thyroxine (100 µg/day). Following thyroid hormone replacement, he gained a height of 4.5 cm over a subsequent period of 3 years. An magnetic resonance imaging (MRI) done after 3 years showed significant reduction in the size of the pituitary mass with resolution of hydrocephalus favoring thyrotroph hyperplasia causing a pituitary pseudotumor.
Pituitary hyperplasia secondary to unrecognized and untreated primary hypothyroidism has been reported in both adults and children. The radiological diminution of the pituitary mass and the mass effects such as visual field improvement after thyroid replacement therapy confirms the possibility of pituitary hyperplasia, rather than a pituitary adenoma. There was a significant reduction in the sellar mass on treatment with thyroxine with normalization of TSH favoring a pituitary pseudotumor. The incomplete resolution may suggest the coexistence of a nonfunctioning adenoma or occurrence of a thyrotroph adenoma. Such thyrotroph adenomas are presumed to occur as the result of protracted pituitary stimulation secondary to long-standing thyroid deficiency.
Congenital hypothyroidism (CH) is a common preventable cause of intellectual disability. The estimated incidence in India is 1:2500–2800 live births with a varied age of onset and clinical features.1 Much of the etiology is due to thyroid ectopia, aplasia or hypoplasia. Disturbances of growth, puberty, and sexual function in those with CH as seen in our subject can be explained by the secondary effects of thyroid hormone deficiency on pituitary function.2 Severe protracted thyroid hormone deficiency may therefore result in thyrotropin adenomas of the pituitary gland.
zoom view
Figures 1A and B: (A) Clinical features of short stature and dysmorphic features and (B) X-ray of hand showing bone age of around 10–12 years.
zoom view
Figures 2A to D: Computed tomography (CT) scan of the head done before treatment (arrow).
  1. Thomas N. Thyroid disorders in the transitional age group—an Indian perspective. In: Mathew MC (Ed). Promoting Childhood Wellbeing-Vellore Experiences. 2002:38–46.
  1. Desai MP, Upadhye P, Colaco MP, et al. Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique. Indian J Med Res. 1994;100:36–42.
14CASE 7
A 36-year-old gentleman presented with holocranial headache for over 2 months and weight gain of 10 kg in 5 months. He had a dull look with slow relaxation of the ankle reflexes. He did not have vomiting or postural hypotension (Figure 1).
The thyroid-stimulating hormone (TSH) levels were 320 mIU/mL (normal: 0.3–4.5 mIU/mL). The creatine phosphokinase (CPK) levels were markedly elevated. A CT scan brain showed a sellar mass with suprasellar extension (Figure 2).
With the above clinical and investigative findings he was diagnosed to have primary hypothyroidism with pituitary pseudotumor. The patient was started with oral levothyroxine which relieved his headache.
zoom view
Figure 1: Clinical features of the patient with dull face and a lethargic look.
Pituitary pseudotumor (pituitary thyrotroph hyperplasia) caused by unrecognized and untreated hypothyroidism has been described mostly in adults. Treatment with levothyroxine results in normalization of the size of the pituitary gland.1 The myolysis in hypothyroid patients are caused by the change of fast twitching type 2 muscle fiber to slow twitching type 1 muscle fiber, deposition of glycosaminoglycan, poor contractility of the actin-myosin filaments, low myosin ATPase activity, and low ATP turnover. This is associated with elevated CPK levels which usually normalize after levothyroxine treatment.2
zoom view
Figure 2: Computer tomography (CT) scan of the brain showing a sellar mass (shown with an arrow).
  1. Larson NS, Pinsker JE. Primary hypothyroidism with growth failure and pituitary pseudotumor in a 13-year-old female: a case report. J Med Case Rep. 2013;7:149.
  1. Al-Shraim M, Syro LV, Kovacs K, et al. Inflammatory pseudotumor of the pituitary: case report. Surg Neurol. 2004;62(3):264–7.
15CASE 8
A 32-year-old lady presented with intolerance to heat, significant weight loss for over a month. Over the past 1 week she had also developed pain over the neck, fever, and tremors.
On examination, she had a palpable, painful diffuse thyroid swelling. There were no significant findings.
Laboratory investigations showed an erythrocyte sedimentation rate (ESR) of 110 mm and a thyroid-stimulating hormone (TSH) of 0.009 mIU/mL. Thyroid uptake study was done and showed very poor uptake of 99mTc in the thyroid bed (1.7% after 24 h) (Figure 1).
A biopsy of the thyroid gland was done which showed neutrophils and epithelioid giant cells (Figure 2).
The clinical and investigative evidence led to the diagnosis of de Quervain's thyroiditis. The patient was given analgesics which relieved her pain.
Inflammatory disorders of the thyroid gland are divided into three groups according to their duration: acute, subacute and chronic. De Quervain's thyroiditis (also termed giant cell or granulomatous thyroiditis) is a subacute inflammation of the thyroid, which accounts for 5% of the thyroid inflammatory disorders. The etiology is unknown, but it generally appears two weeks after an upper viral respiratory infection.
zoom view
Figure 1: Thyroid uptake study (131I) showing no uptake in the thyroid bed.
(SSN: suprasternal notch).
The natural history of granulomatous thyroiditis involves four phases: The destructive inflammation results in transient hyperthyroidism followed by euthyroidism. After transient hypothyroidism, the disease becomes inactive and thyroid function is normalized.1 Ultrasonography usually shows unilateral or bilateral hypoechoic, poorly defined, nonovoid, hypovascular, focal lesions and may mimic malignant thyroid nodule. Few may be diffuse and heterogeneously hypoechoic in appearance.2 The disease often remains unrecognized, or the first phase of the disease is diagnosed and treated as hyperthyroidism. The diagnosis can be confirmed by the presence of thyroid autoantibodies, cold gland (poor uptake) on scintigraphy and fine-needle aspiration cytology (FNAC). There is no definitive treatment. Nonsteroidal anti-inflammatory drugs (NSAIDs) or glucocorticoids can be given to relieve the pain.
zoom view
Figure 2: Biopsy showing epithelioid giant cells (shown with an arrow) and neutrophils.
  1. Thomas N. Thyroiditis in India—profile and management. In: Das S (Ed). The Association of Physicians of India—Medicine Update, Volume 13. 2003. pp. 469–74.
  1. Frates MC, Marqusee E, Benson CB, et al. Subacute granulomatous (de Quervain) thyroiditis: grayscale and color Doppler sonographic characteristics. J Ultrasound Med. 2013;32(3):505–11.
17CASE 9
A 38-year-old lady presented with the history of a painless swelling in front of the neck for the past 2 years. She had history of weight gain and cold intolerance for which she approached her family physician and was started on oral replacement of thyroxine, after preliminary thyroid function tests. She also had complaints of pain in the proximal interphalangeal joints of both her hand over the past 5 years for which she had taken analgesics off and on, for pain relief.
Clinical examination of the neck showed a diffuse thyroid swelling, rubbery in consistency, with an approximate weight of 40 g with pyramidal lobe enlargement (Figure 1). She also had deformity of the fingers (Figure 2). The rest of systemic examination was unremarkable.
The biochemical evaluation showed a high thyroid-stimulating hormone (TSH) titer of 56 mIU/L and the thyroid peroxidase antibody (TPOAb) titers (normal: less than 35 IU/mL) were 1000 IU/mL. She also was rheumatoid factor (RF) positive (100 µ/mL). A biopsy of the thyroid swelling showed heterogeneous clusters of lymphocytes (Figure 3). With the above mentioned clinical features and investigations this patient was diagnosed to have Hashimoto's thyroiditis with rheumatoid arthritis (RA). She was started on methotrexate, hydroxychloroquine, and on replacement doses of thyroxine. She has been on follow-up ever since.
zoom view
Figure 1: Diffuse thyroid swelling (arrow).
Hashimoto's thyroiditis is considered as an autoimmune disease whose detection was originally based on the tissue biopsy but which now can be reliably detected by the presence of high titer anti-microsomal antibodies. Its relationship to rheumatic diseases seems more frequent than might be expected, but this has not been definitely proved. Hashimoto's thyroiditis frequently leads to hypothyroidism, which in turn progresses to myxedema. Rheumatic syndromes associated with hypothyroidism include fibrositis, myositis, myalgias, carpal tunnel syndrome, Sjögren's syndrome, joint stiffness, and joint effusion.1,2 Thyroid dysfunction is seen at least three times more often in women with RA than in women with similar demographic features with noninflammatory rheumatic diseases such as osteoarthritis and fibromyalgia. Most of these manifestations are said to resolve with thyroxine replacement.
zoom view
Figure 2: Deformities in the interphalangeal joints of right hand.
zoom view
Figure 3: Dense clusters of lymphocytes (shown with an arrow) with loss of normal thyroid architecture on biopsy.
  1. Buchanan WW, Crooks J, Alexander WD, et al. Association of Hashimoto's thyroiditis and rheumatoid arthritis. Lancet. 1961;i:245–8.
  1. Buchanan WW. The relationship of Hashimoto's thyroiditis to rheumatoid arthritis. Geriatrics. 1965;20:941–8.
19CASE 10
A 12-year-old boy presented with hair loss, a small thyroid swelling, lethargy and drooping of eyelids as shown in Figure 1. His thyroid-stimulating hormone (TSH) was 12.0 mIU/L.
This patient was diagnosed to have autoimmune thyroid disease (AITD): Hashimoto's thyroiditis with myasthenia gravis (MG) and alopecia, suggestive of autoimmune polyglandular endocrinopathy syndrome type 2.
Graves’ disease and MG are both autoimmune diseases and the coexistence of these two diseases is rare but well recognized. Epidemiological studies have shown that AITD occurs in approximately 5–10% of patients with MG, whereas MG is reported in a fairly low frequency (0.2%) of patients with AITD.1 The association is thought to be uncommon, and it is generally believed that hyperthyroidism is far more commonly associated with MG than is hypothyroidism. However, no explanation has been offered to account for this difference.
The clinical presentation of MG associated with AITD is frequently restricted to the eye muscles. The reason for the association of AITD with ocular MG is unknown, but several hypotheses can be considered. First, ocular MG and generalized MG might actually represent separate diseases with different spectra of associated conditions. Second, an immunological cross-reactivity against epitopes or autoantigens shared by the thyroid and the eye muscles might be the basis of this association. In three-quarters of patients with both conditions, thyrotoxic symptoms occur before or concurrently with those of myasthenia.
PAS I, also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) or MEDAC (multiple endocrine deficiency autoimmune candidiasis syndrome), usually appears in childhood in the age of 3–5 years or in early adolescence and, therefore, is also called juvenile autoimmune polyendocrinopathy. It is defined by a spectrum of persistent fungal infection (chronic mucocutaneous candidiasis), the presence of acquired hypoparathyroidism, and adrenal failure (Addison's disease).
zoom view
Figures 1A and B: Hair loss and bilateral ptosis.
  1. Drachman DB. Myasthenia gravis and the thyroid gland. N Engl J Med. 1962;15:330–3.
  1. Christensen PB, Jensen TS, Tsiropoulos I, et al. Associated autoimmune diseases in myasthenia gravis. A population based study. Acta Neurol Scand. 1995;91:192–5.
20CASE 11
A 30-year-old lady presented to the outpatient department with a swelling in front of the neck, hoarseness of voice, fatigue and progressively worsening muscle weakness. She had a significant weight loss of 5 kg over 6 months. She also complained of difficulty in chewing wheat pancakes, but no such symptoms with soft solids. She also gave a history of two episodes of sudden onset breathing difficulty in the past requiring invasive ventilation and subsequent tracheotomies. At presentation sequential photographs were taken and show the following clinical findings (Figure 1).
Her blood investigations showed thyroid-stimulating hormone (TSH) of 0.007, FTC of 2.2, and a T4 of 21.2. Antiacetylcholine receptor antibody was 0.56 (normal < 2.1), antithyroglobulin antibodies: 22 (<100 IU/mL), and antimicrosomal (thyroid peroxidise) 400 (<50 IU/mL). A CT scan of the neck was done and had shown an enlarged thyroid gland with a bulky thymus inconsistent for her age (Figure 2).
This patient has a classical history suggestive of autoimmune hyperthyroidism with myasthenia gravis (MG). She was started on beta-blockers and was referred to the thoracic surgeons for a thymectomy.
It is well known that autoimmune thyroid disorders are known to be present only in 5–7.5% of the MG patients. However Myasthenia is seen in only 0.2% of the patients with thyroid disease.1 The higher frequency of ocular myasthenia in autoimmune thyroid disease could well be attributed to the genetic linkage. Certain human leukocyte antigen (HLA) specificity (B8, DR3, and BW46) between MG and thyroid disease has been reported to be associated with thyrotoxicosis.2
zoom view
Figure 1: Sequential photographs at 0 seconds, 30 seconds, and 60 seconds of attempted upward gaze.
zoom view
Figure 2: Computed tomography (CT) thorax showing a homogeneous soft tissue density mass in the anterior mediastinum in keeping with enlarged thymus (arrow)
  1. Chhabra S, Pruthvi BC. Ocular myasthenia gravis in a setting of thyrotoxicosis. Indian J Endocrinol Metab. 2013;17(2):341–3.
  1. Weetman AP, McGregor AM. Autoimmune thyroid disease: further developments in our understanding. Endocr Rev. 1994;15(6):788–830.
22CASE 12
A 19-year-old girl had early satiety toward the evening, tremors and weight loss and underwent radioactive 131I ablation 2 years ago. She presented now with weight gain, yellowish tinged skin and hoarseness of voice (Figure 1). On examination, she was found to have bilateral ptosis with easy fatigability after talking for 2 minutes.
Her thyroid-stimulating hormone (TSH) before ablative treatment was <0.01 mIU/mL and FTC was 10 ng/dL. Preablation iodine uptake studies (131I) showed enlarged thyroid gland (both lobes) with uniform tracer uptake (Figure 2).
She initially had Graves’ disease associated with myasthenia gravis (MG). Following ablation with 131I, she went into hypothyroidism but ptosis persisted because of the MG.
PAS II is more common and occurs in adulthood, mainly in the third or fourth decade. It is characterized by primary adrenal failure with AITD (Schmidt's syndrome) and/or type 1 diabetes mellitus (Carpenter's syndrome). Adrenal failure may precede other endocrinopathies. Vitiligo and gonadal failure are occasionally associated with PAS II than with type 1. The other disorders like immunogastritis, pernicious anemia, and alopecia areata may occur in type 2. Immunogastritis, eventually leading to pernicious anemia, is an organ-specific autoimmune disease. PAS II is believed to be polygenic, characterized by an autosomal dominant inheritance. Some authors also mention there is APS type 3.APS type 3 (APS-3), is subdivided into three sub-types, based on their association with one thyroid autoimmune disease such as Hashimoto's thyroiditis, Graves’ disease, with one or more of the following diseases: type 1 diabetes mellitus (T1DM), chronic atrophic gastritis or pernicious anemia, and vitiligo, alopecia or MG.1,2
zoom view
Figure 1: Asymmetric bilateral ptosis with yellowish discoloration of the face.
zoom view
Figure 2: Preablative uptake studies.
  1. Lahner E, Centanni M, Agnello G, et al. Occurrence and risk factors for autoimmune thyroid disease in patients with atrophic body gastritis. Am J Med 2008. 121:136–141.
  1. Kahaly GJ. Polyglandular immune syndromes. Eur J Endocrinol 2009;161:11–20.
23CASE 13
A 65-year-old lady who is a known patient of Graves’ disease presented to the thyroid specialty clinic with a history of redness of eyes.
This patient had an active eye disease due to Graves’ ophthalmopathy (GO) with a clinical activity score (CAS) of 4/7 (Figures 1A and B).
This patient received intravenous glucocorticoid pulse therapy, once a week and intravenous methylprednisolone (0.5 g weekly for 6 weeks, then 0.25 g, weekly for 6 weeks each with a total cumulative dose of 4.5 g). A CT scan was performed (Figure 2).
For initial CAS, only items 1–7 are scored.
  1. Spontaneous orbital pain
  2. Gaze evoked orbital pain
  3. Eyelid swelling that is considered to be due to active (inflammatory phase) GO
  4. Eyelid erythema
  5. Conjunctival redness that is considered to be due to active (inflammatory phase) GO
  6. Chemosis
  7. Inflammation of caruncle or plica
    Patients assessed during follow-up (after 3 months) can be scored out of 10 by including items 8–10
  8. Increase of >2 mm in proptosis
  9. Decrease in uniocular ocular excursion in any one direction of >5°
  10. Decrease of acuity equivalent to 1 Snellen line using a pin hole.1
zoom view
Figures 1A and B: Graves’ ophthalmopathy.
The other treatment modalities for patients who are refractory to steroid therapy include intravenous rituximab or external beam radiation to the affected eyes. The usual dose for treatment of the retro-orbital area is 2000 rads (20 Gy), administered in 10 doses of 200 rads (2 Gy) over 2 weeks. Surgical decompression of the affected eye can be attempted in certain patients with sight threatening eye disease. Transantral decompression is a surgical procedure where the floor and medial wall of the orbit is removed to allow decompression of the orbital cavity.2
zoom view
Figure 2: CT scan showing bilateral proptosis with thickening of the extraocular muscles (shown with an arrow) and retro-orbital fat stranding.
  1. Subekti I, Boedisantoso A, Moeloek ND, et al. Association of TSH receptor antibody, thyroid stimulating antibody, and thyroid blocking antibody with clinical activity score and degree of severity of Graves ophthalmopathy. Acta Med Indones. 2012;44(2):114–21.
  1. Tortora F, Cirillo M, Ferrara M, et al. Disease activity in Graves’ ophthalmopathy: diagnosis with orbital MR imaging and correlation with clinical score. Neuroradiol J. 2013;26(5):555–64.
A 34-year-old gentleman presented with history of prominence of left eye which he noticed since the 1 year (Figure 1). He also reported weight loss of around 4 kg over a span of the last 4 months along with constant anxiety throughout the day.
Differential diagnoses for unilateral proptosis are infiltrative disorders like lymphoma, sarcoidosis, IgG4-related disease, primary orbital tumors, lachrymal gland tumors or dysthyroid ophthalmopathy. He was investigated and found to have suppressed TSH (<0.01 mIU/mL), elevated T4 levels −30 μg/dL and free T4–4.5 ng/dL. His TSH receptor antibody level was 10 IU/L. He was diagnosed to have Graves’ disease and was started on carbimazole. A plan was made for radio-iodine therapy with 131I at a later date, after his thyrotoxic symptoms settle. In addition, his clinical activity score (CAS) was 0/7 during the first visit and he was kept on follow-up for the same. He was counseled about the option of cosmetic surgery for the left exophthalmos, if required, as it was clinically inactive.
Clinical differential diagnoses for unilateral proptosis is innumerable.1 However, one should keep in mind that hyperthyroidism can present as unilateral propotosis. It should be ruled out before investigating for the other diagnosis.2 Although Graves’ ophthalmopathy (GO) is usually associated with hyperthyroidism, up to 20% may be euthyroid. Pure unilateral ophthalmopathy is rare, which is seen in up to 10% of patients with Graves’. TRAbs, a pathological marker for Graves’ disease, is present in almost every patient with the disease, which makes it a good marker in patients with uncertain oththalmopathy. Patients with euthyroid Graves’ ophthalmopathy (GO) typically have a mild, asymmetric disease with a lesser degree of soft tissue inflammation. These patients have to be placed on long-term follow-up as they can have worsening of thyroid function.
IgG4-related disease of the orbit typically causes proptosis by involvement of lacrimal gland, extraocular muscles or other pseudo-tumor. This diagnosis is typically made from biopsy findings, and an elevated IgG4 levels supports the diagnosis. The treatment for IgG4 disease is glucocorticoids.
zoom view
Figure 1: Unilateral proptosis
  1. Topilow NJ, Tran AQ, Koo EB, et al. Etiologies of Proptosis: A review. Intern Med Rev. 2020 Mar;6(3):10.18103/imr.v6i3.852.
  1. Marinò M, Ionni I, Lanzolla G, et al. Orbital diseases mimicking graves’ orbitopathy: a long-standing challenge in differential diagnosis. J Endocrinol Invest. 2020 Apr;43(4):401–11.
27CASE 15
A 58-year-old man presented with complaints of neck swelling, protrusion of the eyes and “bumpy” swelling in the legs. He was evaluated and was found to have a thyroid swelling and deranged thyroid function parameters [thyroid-stimulating hormone (TSH) < 0.001 mIU/mL and T4 > 30 (µg/dL) and free T4 > 10 (ng/dL)] (Figures 1 to 3).
Histopathologically, pretibial myxedema shows deposition of mucin (glycosaminoglycans) throughout the dermis and subcutis. Deposited mucin promotes dermal edema by promoting the retention of fluid in the skin. This results in compression/occlusion of small peripheral lymphatics and lymphedema. There are four typical types seen:
  1. Diffuse, nonpitting edema (swelling)—the most common form.
  2. Plaque form—raised plaques on a background of nonpitting edema.
  3. Nodular form—sharply circumscribed tubular or nodular lesions.
  4. Elephantiasic form—nodular lesions with pronounced lymphedema (swelling due to accumulation of lymphatic tissue fluid). Lesions may coalesce to give the entire extremity an enlarged, warty appearance. This form is rare.
This affects 0.5–4.3% of patients with Grave's disease; it is seen in up to 13% in those with severe eye disease.
Dermopathy almost always is associated with ophthalmopathy and with acropachy in severe cases. A common antigen with thyroid, in tissues of the skin and the eyes, most likely TSH receptor, is involved in pathogenesis of extrathyroidal manifestations. Presence of dermopathy and acropachy are the predictors of severity of an autoimmune process. Local corticosteroid application is the standard therapy for dermopathy.1,2
zoom view
Figures 1A and B: (A) Graves’ ophthalmopathy with a clinical activity score (CAS) of 4/7 with a diffuse bilateral firm thyroid swelling; (B) Pretibial myxedema (shown with an arrow) in hyperthyroidism (nodular type).
zoom view
Figure 2: Thyroid dermopathy, or infiltrative dermopathy (diffuse type of pretibial myxedema).
zoom view
Figure 3: Thyroid acropachy.
  1. Tortora F, Cirillo M, Ferrara M, et al. Disease activity in Graves’ ophthalmopathy: diagnosis with orbital MR imaging and correlation with clinical score. Neuroradiol J. 2013;26(5):555–64.
  1. Fatourechi V. Pretibial myxedema: pathophysiology and treatment options. Am J Clin Dermatol. 2005;6(5):295–309.
29CASE 16
A 34-year-old lady presented with a swelling in front of the neck for 2 years duration (Figure 1). There were no symptoms of thyroid dysfunction or compressive symptoms (dysphagia, dyspnea or hoarseness of voice). There was no significant past history or family history.
On examination, the swelling moved up with deglutition but not with protrusion of the tongue. The swelling was smooth-surfaced and firm in consistency. It was not fixed to the surrounding structures. There were no other clinical findings.
An ultrasonography of the thyroid swelling was done (Figures 2A and B) and the thyroid function tests were normal.
Ultrasound showed a well-defined, solid, isoechoic nodule with positive halo sign (thin hypoechoic rim around the lesion) in the right lobe of thyroid. These are features of probably benign thyroid nodule. There were other small colloid nodules in both lobes. A radionuclide scan was done and revealed a cold nodule in the right lobe (Figure 3). Thus, dominant nodule in a multinodular goiter is the most likely diagnosis.
zoom view
Figure 1: Clinical photograph of the patient with a thyroid swelling.
Preliminary studies suggest the potential use of an imaging staging system similar to that used for breast imaging. The thyroid imaging reporting and data system (TIRADS) system rates ultrasound findings on a score of 1–5 based upon ultrasonographic characteristics (Figure 4).1
zoom view
Figures 2A and B: Halo sign (shown with an arrow) on ultrasonography of the thyroid swelling.
Similar to the breast imaging-reporting and data system (BIRADS) category, sonographic TIRADS classification is as follows:
  • TIRADS 1—normal thyroid gland
  • TIRADS 2—benign lesions
  • TIRADS 3—probably benign lesions
  • TIRADS 4—suspicious lesions (subclassified as 4a, 4b, and later 4c with increasing risk of malignancy)
  • TIRADS 5—probably malignant lesions (>80% risk of malignancy)
For benign nodules, surgery is indicated if any of the following are present:2
  • Reaccumulation in the cystic nodule despite 3–4 repeated Fine-needle aspiration cytology (FNACs).
  • Size more than 4 cm in some cases
  • Compressive symptoms (dyspnea, dysphagia)
  • Signs of malignancy (vocal cord dysfunction, lymphadenopathy.
zoom view
Figure 3: Cold nodule on thyroid uptake study (shown with an arrow).
zoom view
Figure 4: Summary of American College of Radiology (ACR)—TIRADS.3
(FNA: fine-needle aspiration; FNAC: fine-needle aspiration cytology; TIRAD: thyroid imaging reporting and data system)
  1. Russ G, Bigorgne C, Royer B, et al. Bienvenu-Perrard M. [The Thyroid Imaging Reporting and Data System (TIRADS) for ultrasound of the thyroid]. J Radiol. 2011;92(7-8):701–13.
  1. Middleton WD, Teefey SA, Reading CC, et al. Multi-institutional analysis of thyroid nodule risk stratification using the American College of Radiology Thyroid Imaging Reporting and Data System. AJR Am J Roentgenol. 2017;208(6):1331–41.
32CASE 17
A 72-year-old lady gave a history of swelling in front of the neck for 50 years. She had been operated in 1972, with a probable subtotal thyroidectomy, for the thyroid swelling. Ten years after the surgery, she noticed a similar neck swelling, which had gradually progressed to the present size (Figures 1A and B). She had symptoms of dyspnea and hoarseness of voice. She also complained of dysphagia. There were no other symptoms suggestive of hyperthyroidism or hypothyroidism.
On examination, a large thyroid gland was palpable which had an irregular surface. It was firm in consistency and had a size of 16 × 15 cm. The lower border was not palpable. Pemberton's sign was positive (Figure 1B). Upper- and midcervical palpable lymph nodes were also palpable.
Plain radiograph a lateral view of the neck was done to assess the degree of tracheal compression (Figure 2).
An ultrasound of the neck swelling showed multiple solid, isoechoic nodules with a positive halo sign, coarse calcifications and peripheral vascularity in both lobes of the thyroid gland (TIRADS 3) (Figures 3 to 5).
zoom view
Figures 1A and B: Massive thyroid swelling with a positive Pemberton's sign.
zoom view
Figure 2: Lateral radiograph of the neck showing a large goiter with macrocalcifications (shown with an arrow). There was no significant tracheal compression.
zoom view
Figures 3A and B: USG thyroid showing multiple well defined, solid, isoechoic nodules in both lobes of the thyroid (shown with an arrow).
Fine-needle aspiration (FNA) smears from the right thyroid nodule were suggestive of benign follicular 33nodule. In view of the large thyroid mass and compressive symptoms, she underwent total thyroidectomy. The surgical specimen on examination showed features of nodular hyperplasia. So the diagnosis of recurrent symptomatic benign nodular hyperplasia of thyroid was made. She was advised total thyroidectomy in view of the size and compressive symptoms.
zoom view
Figures 4A and B: Color Doppler examination revealing peripheral vascularity in the thyroid nodules.
  • Nodularity of thyroid tissue is extremely common. In a large population study (Framingham, MA), as an example, clinically apparent thyroid nodules were present in 6.4% of women and 1.5% of men.
  • The prevalence of cancer is higher in several groups:
  • Children
  • Adults <30 years or over 60 years old.
  • Patients with a history of head and neck irradiation.
  • Patients with a family history of thyroid cancer. The National Cancer Institute Thyroid Fine Needle Aspiration State of the Science Conference (“Bethesda Conference”) suggests the following classification scheme:
    1. Nondiagnostic
    2. Benign: This includes macrofollicular or adenomatoid/ hyperplastic nodules, colloid adenomas, nodular goiter, and Hashimoto's thyroiditis.
    3. Follicular lesion or atypia of undetermined significanc (FLUS or AUS): This includes lesions with atypical cells, or mixed macrofollicular and microfollicular nodules.
    4. Follicular neoplasm: This includes microfollicular nodules, including Hürthle cell lesions.
    5. Suspicious for malignancy
    6. Malignant
zoom view
Figure 5: Eggshell calcification.
The Bethesda System for Reporting Thyroid Cytopathology with implied risk of malignancy is shown in shown below
  1. Non Diagnostic- 1- 4 %
  2. Benign - 0-3%
  3. AUS-5-15%
  4. Follicular Neoplasm- 15-30%
  5. Suspicious of Malignancy-60-75%
  6. Malignancy-97-99%(1,2)34
For benign nodules, surgery is indicated if any of the following are present:2
  • Reaccumulation in the cystic nodule despite 3–4 repeated FNACs
  • Size more than 4 cm in some cases
  • Compressive symptoms (dyspnea, dysphagia)
  • Signs of malignancy (vocal cord dysfunction, lymphadenopathy.
  1. Wu HH, Rose C, Elsheikh TM. The Bethesda system for reporting thyroid cytopathology: An experience of 1,382 cases in a community practice setting with the implication for risk of neoplasm and risk of malignancy. Diagn Cytopathol. 2012 May;40(5):399–403.
  1. Cibas ES, Ali SZ. The 2017 Bethesda System for Reporting Thyroid Cytopathology. Thyroid. 2017 Nov;27(11):1341–46.
36CASE 18
A 43-year-old lady presented to the endocrinology clinic with complaints of swelling in the right side of the neck, which was slowly increasing in size over the past 3 years.
The ultrasound of the swelling showed features as given in Figure 1 After fine-needle aspiration (FNA) the swelling subsided markedly.
This patient has a cystic nodule in the right lobe of thyroid which explains the regression of the thyroid nodule after the FNAC. The differential diagnosis in this patient is a cystic parathyroid adenoma. Thyroid scintigraphy showed a hypofunctioning “cold” nodule, as these cystic nodules do not concentrate radioiodine or technetium. Aspiration cytology in this patient showed only colloid (Figures 2 and 3).
zoom view
Figure 1: Ultrasound of thyroid showing a cystic nodule with thin septae.
The majority of cystic thyroid nodules are benign degenerating thyroid adenomas. Autonomously functioning thyroid adenomas are more likely to undergo cystic degeneration than nonfunctioning adenomas. Purely cystic lesions rarely contain cancer.1 Size (>4 cm) of the cystic nodule may also be used as a criterion for surgery, although we do not use size as an absolute criterion for surgery.2
zoom view
Figure 2: Ultrasound of thyroid showing an anechoic (cystic) nodule with thin internal septae (shown with an arrow).
zoom view
Figure 3: Scanned film of the thyroid uptake scan showing a hypofunctioning right side nodule (shown with an arrow).
  1. Tan GH, Gharib H. Thyroid incidentalomas: management approaches to nonpalpable nodules discovered incidentally on thyroid imaging. Ann Intern Med. 1997;126:226–31.
  1. Massoll N, Nizam MS, Mazzagerri EL. Cystic thyroid nodules: diagnostic and therapeutic dilemmas. The Endocrinologist. 2002;12:185–98.
42CASE 19
A 60-year-old lady, Ms S, presented with complaints of having had a fever with cough for 1 week and an anterior neck swelling for a fortnight. She was diagnosed to have a thyroid nodule at a clinic in her hometown. This had also been associated with dysphagia, dyspnea and hoarseness of voice. A fine-needle aspiration cytology (FNAC) was performed for the same which turned out to be inconclusive. She was known to have type 2 diabetes mellitus (T2DM) with poor glycemic control and had been using insulin for the treatment of the same.
Examination revealed a thyroid swelling—more prominent on the left, hard and very tender—which moved corresponding to deglutition. The overlying skin was erythematous (Figure 1). Pemberton's sign was positive with a right-sided tracheal deviation and lower border could not be visualized.
Blood investigations revealed an HbA1c of 13.1% and a leukocyte count of 9,000 with 80% neutrophilia. Her albumin/gobulin ratio was 3:5, suggesting hyperglobulinemia. Blood cultures failed to elicit any growth which could be explained by the partial antibiotic course she had been subjected to elsewhere. She had been tested negative for HIV.
Ultrasonography of her neck—performed at presentation—showed a large hypoechoic lesion with internal echoes in the region of the left lobe measuring about 90 cc with overlying subcutaneous edema (Figure 2). Computed tomography (CT) initially showed a septic mass in the left lobe of thyroid while an FNAC of the same revealed clusters of neutrophils. When ultrasonography was performed for the second time in view of the worsening of her symptoms, a cystic nodule measuring approximately 165 cc was seen, along with internal septae replacing the entire left lobe of the thyroid gland (Figure 3).
zoom view
Figure 1: Large neck swelling, L > R; note how the overlying skin is erythematous (shown within circle).
Spiking fever and increasing tenderness over the swelling suggested that the patient was rapidly declining and she was asked to undergo a left hemithyroidectomy. Histopathological examination of the tissue from the surgery displayed scanty thyroid parenchyma with abundant inflammatory granulation tissue containing dense infiltrates of neutrophils, lymphocytes, plasma cells, and histiocytes. Fibrosis, necrosis, degeneration, and hemorrhage were seen in the surrounding stroma. This was suggestive of acute suppurative thyroiditis (AST). There were no features of malignancy or granuloma. A culture obtained from this tissue grew Escherichia coli.
The patient was then treated with antibiotics and was asymptomatic at discharge. She was clinically euthyroid at follow up. Glycemic control was achieved solely with OADs and she did not require any insulin.
Acute suppurative thyroiditis is a life-threatening endocrine emergency which needs urgent surgical intervention.
zoom view
Figure 2: Large left-sided hypoechoic lesion seen on USG.
Acute infection of the thyroid gland is an uncommon entity owing to its encapsulation that prevents dissemination. This is further supplemented by a high iodine content within the gland, a widespread lymphatic drainage surrounding it and its rich arterial vasculature. AST, as a differential, must be kept in mind in all patients with a tender thyroid nodule—in addition to de Quervain's thyroiditis—despite the fact it accounts for <1% of all thyroid illnesses.
zoom view
Figure 3: CT neck showing a large septate mass where the left lobe of thyroid should be.
Fine-needle aspiration cytology offers great utility in the diagnosis of thyroid pathologies as it has proven to be reliable while remaining minimally invasive and economical. While the formation of a local hematoma and pain are the most common complications of FNAC, AST may also rarely develop following the procedure.1
Major causative pathogens are Staphylococcus and Streptococcus species while gram-negative organisms and anaerobes are also seen in some cases.2 Mycobacteria and fungi are more likely to be pathogens in immunocompromised patients and these infections tend to be more chronic in nature, in comparison to bacterial infection.
The disease may progress rapidly and could prove to be fatal. This warrants heightened suspicion in susceptible cases. This could facilitate an early diagnosis which is pertinent. Ultrasonography is the preferred imaging methodology for the diagnosis of thyroid illnesses, having the added benefit of needle aspiration and subsequent cytological study. A CT scan or magnetic resonance imaging (MRI) is only required if the aforementioned imaging proves to be inconclusive. Abscess may appear as cold when seen on an iodine uptake scan. Antimicrobial therapy and surgical drainage of abscesses remain the treatments of choice.
  1. Polyzos SA, Anastasilakis AD. Clinical complications following thyroid fine-needle biopsy: A systematic review. Clin Endocrinol. 2009;71:157–65.
  1. McLaughlin SA, Smith SL, Meek SE. Acute suppurative thyroiditis caused by Pasteurella multocida and associated with thyrotoxicosis. Thyroid. 2006;16(3):307–10.
44CASE 20
A 72-year-old lady presented with the history of low backache which had worsened over the past 10 days and a progressively increasing neck swelling for the past 2 years. Previously, she had undergone a right hemithyroidectomy in 1990 for a solitary thyroid nodule.
On examination, the left lobe of thyroid was just palpable. The trachea was central and both carotids were normal. There was no enlargement of the cervical lymph nodes. There was a palpable sacral mass that was firm and nontender.
An ultrasound of the neck was done and showed a hypoechoic thyroid mass with calcifications and an absent peripheral halo (Figures 1A and B).
Figure 1B shows color Doppler with an increased vascularity.
Magnetic resonance imaging (MRI) of the spine (Figures 2A to C) was done and it showed a sacral mass which was suggestive of metastasis. A whole body iodine uptake scan was done and showed similar evidence of sacral metastasis.
A bone scan was done and it showed an increased uptake in the sacral region suggestive of metastasis (Figures 3A and B).
zoom view
Figures 1A to C: Ultrasound of the neck showing an absent right lobe (postoperative status), a solid, round, hypoechoic, heterogeneous nodule with vascularity in the lower pole of left lobe of thyroid. There were few benign right-sided neck nodes.
zoom view
Figures 2A to C: Magnetic resonance imaging (MRI) of the spine showing a hypointense, ill-defined mass (shown with an arrow) replacing marrow and destroying sacral bone suggestive of metastasis.
Her bone scan and whole body uptake scan showed an increased tracer uptake in the sacral region (Figures 3 and 4). However, there were no uptake in the thyroid bed area. She underwent partial excision of the sacral mass in 2012 and the biopsy report at that time revealed metastatic papillary thyroid carcinoma (Figures 5A and B). She was given an 131I 100 mCi ablation and advised to come for follow-up after 6 months.
The follow-up whole body uptake scan after 1 year revealed an increased uptake in the thyroid region (Figure 6A). The subsequent ultrasound thyroid confirmed a 2 cm sized recurrence of the thyroid tumor. She underwent a completion thyroidectomy. The surgical specimen showed multifocal papillary microcarcinoma (follicular variant). She also was given an 131I 100 mCi ablation following surgery (Figure 6B).
Papillary thyroid carcinoma is well-differentiated and slow growing, with unique characteristics. Adjuvant therapy includes thyroid hormone suppression and radioiodine (131I) therapy rather than chemotherapy and radiotherapy. The prognosis is generally excellent and is influenced by factors related to the patient, the disease and the therapy. Factors associated with a less favorable outcome are male gender, age >40 years, family history of papillary cancer, tumor diameter > 4 cm, lymph node or distant metastases and invasive nature or poorly differentiated tumor. After total thyroidectomy and 131I ablation, the follow-up includes a diagnostic radioiodine scan and serum thyroglobulin estimation (after thyroxine withdrawal) at 6 months.46
zoom view
Figures 3A and B: 99Tc bone scan showing an increased uptake in the sacral region suggestive of sacral metastasis (shown with an arrow).
(CBD: continuous bladder drainage).
zoom view
Figure 4: 131I whole body scintigraphy postablation scan showing metastasis in the region of lumbar spine (shown with an arrow).
(SSN: suprasternal notch).
zoom view
Figures 5A and B: Orphan Annie eye nuclei (shown with an arrow) in papillary carcinoma of thyroid, the nuclei looked similar to the eyes of all the characters of the American comic strip, Little Orphan Annie.
Further long-term follow-up includes clinical examination, thyroid-stimulating hormone (TSH) monitoring to ensure adequate suppression and serum thyroglobulin measurement.1 If thyroglobulin becomes detectable in a patient taking thyroxine then thyroxine is withdrawn, a diagnostic whole body scan is performed and the thyroglobulin measurement is repeated. Recombinant human TSH administration can be used to avoid the need for thyroxine withdrawal.2
zoom view
Figures 6A and B: (A) Thyroid uptake study done before completion thyroidectomy showing an increased uptake in the left side of the thyroid region (shown with an arrow), (B) Thyroid uptake study done after completion thyroidectomy showing no uptake in the thyroid bed.
(SSN: suprasternal notch).
  1. Jones MK. Management of papillary and follicular thyroid cancer. J R Soc Med. 2002;95(7):325–6.
  1. Unnikrishnan AG, Kalra S, Baruah M, et al. Endocrine Society of India management guidelines for patients with thyroid nodules: A position statement. Indian J Endocrinol Metab. 2011;15(1):2–8.
48CASE 21
A 54-year-old patient Mr G was seen in the Endocrinology OPD with history of progressive swelling in the neck for 5 years, associated with a history of pain in the neck. He was clinically and biochemically euthyroid. He had no other compressive symptoms. On examination, there was a 6 × 5 cm firm to hard swelling more on the left than the right side, which moved up with deglutition. The trachea was deviated to the right. Computed tomography (CT) scan of the neck is shown in Figures 1 and 2. He underwent a total thyroidectomy and the specimens were sent for histopathological examination (Figures 3 and 4).
The surgical specimen was evaluated and was found to have multifocal classical papillary thyroid carcinoma.
The follow-up 131I whole body survey revealed a residual thyroid and lymph nodal metastases (Figure 5).
zoom view
Figures 1A and B: CT scan (coronal view) showing a heterogeneously enhancing large left thyroid nodule (arrow in 1B) with tracheal deviation to the right and a smaller nodule in the right lobe of the thyroid with calcification (arrow in 1A).
zoom view
Figures 2A and B: CT scan (axial view) showing a necrotic left level III lymph node (shown with an arrow).
He underwent 131I ablation a few months later. He was started on suppressive doses of thyroxine and was followed up on a regular basis.
zoom view
Figure 3: Psammoma body in papillary carcinoma of the thyroid (shown with an arrow).
zoom view
Figure 4: Capsular invasion and extracapsular disease, a classical feature of papillary carcinoma of the thyroid (shown with an arrow).
zoom view
Figure 5: Thyroid scintigraphy revealing a bulky residual thyroid and lymph node metastasis (shown with circle).
zoom view
Figure 6: MRI of spine revealing T1 vertebral body collapse with posterior bulge and cord compression (shown with an arrow).
A few months later, he presented with progressive weakness of both lower limbs for 10 days. He also had decreased sensation in both the lower limbs, more on the right than the left. There was no history of urinary or fecal incontinence. Shown below is the MRI of the spine (Figure 6). His chest X-ray shown heterogeneous infiltrates with CT thorax also confirming the same (Figures 7 and 8).
Mr G was evaluated for rapidly progressing paraparesis. An MRI spine showed features of skeletal metastases in multiple vertebrae. The first thoracic vertebra showed collapse and epidural component causing cord compression (Figure 6). A CT scan of the thorax also revealed multiple nodules in both the lungs (Figure 8). He was planned for palliative radiotherapy to the spine and was also referred to the spinal surgery department for urgent decompressive surgery.50
zoom view
Figure 7: Chest radiograph showing numerous basal predominant bilateral lung nodules of varying sizes (metastases, shown with an arrow).
zoom view
Figures 8A and B: CT thorax, axial and coronal sections, showing numerous bilateral lung metastases (shown with an arrow).
51CASE 22
A 61-year-old patient, Mrs S, presented to the casualty with a history of slipping and falling in the bathroom and sustained a closed injury to her left thigh. She had undergone a total thyroidectomy and Sistrunk's operation few months earlier. On examination, she had swelling and tenderness over the left thigh with an abnormal mobility and crepitus. The X-ray of the left femur is shown below.
Mrs S was diagnosed to have a papillary carcinoma thyroid who underwent a total thyroidectomy elsewhere came to our center for further management. She developed a pathological fracture of the left femur and she underwent intramedullary nailing and fixation for the same purpose (Figure 1). The histopathology from the left femur was reported as metastatic adenocarcinoma and the thyroid pathology slides, which were reviewed, was reported as classical papillary carcinoma thyroid. Chest X-ray and computed tomography (CT) thorax revealed features of metastasis (Figures 2A and B). CT abdomen showed a metastasis in the vertebrae (Figure 3). The 131I whole body scan showed an increased uptake in the thyroid residue (Figure 4). She was further evaluated with a positron-emission tomography-computed tomography (PET-CT) for the disease status and was found to have disseminated metastatic disease (Figures 5A to D).
zoom view
Figure 1: Radiograph of the left femur showing a lytic lesion in the left mid shaft of femur with pathological fracture (shown with an arrow).
zoom view
Figures 2A and B: Chest radiograph and CT of thorax showing multiple lung metastasis (canon ball appearance, shown with an arrow).
zoom view
Figure 3: Computed tomography of the abdomen showing a vertebral metastasis (shown with an arrow).
zoom view
Figure 4: 131I Whole body scan revealing uptake in the thyroid bed suggesting a residual lesion (shown with an arrow).
(SSN: suprasternal notch).
zoom view
Figures 5A to D: Positron-emission tomography-computed tomography (PET-CT) showing various areas of metastases including metastatic neck and mediastinal nodes, bone and lung metastases [areas in red indicate areas of increased fluorodeoxyglucose (FDG)-uptake].
(CECT: contrast-enhanced computed tomography)
zoom view
Figures 5A to D:  
She was planned for diagnostic iodine scan followed by a therapeutic radioiodine ablation. She was managed conservatively in the ward with analgesics and symptomatic, palliative care.
The overall incidence for papillary thyroid cancer (PTC) is 16.3/100,000 for women and 5.6/100,000 for men. A history of rapid growth, a thyroid nodule or fixation of the nodule to surrounding tissues, and compressive symptoms like new onset hoarseness or vocal cord paralysis, dysphagia or dyspnea or the presence of ipsilateral cervical lymphadenopathy should raise the suspicion that a nodule may be malignant. Risk factors for PTC include a history of radiation exposure during childhood, a history of thyroid cancer in a first-degree relative, or a family history of a thyroid cancer.1
Mutations in the genes encoding for the proteins in the mitogen-activated protein kinase (MAPK) pathway are critical to the development and progression of differentiated thyroid cancer. Mutations in REarranged 54during Transfection (RET)/PTC, neurotropic tyrosine kinase receptor type 1 (NTRK1), RAS, or BRAF occur in as many as 70% of well-differentiated thyroid cancers.
zoom view
Figures 5A to D:  
Papillary cancers are typically unencapsulated and may be partially cystic. Microscopically, most are characterized by the presence of papillae consisting of one or two layers of tumor cells surrounding a well-defined fibrovascular core; follicles and colloid are typically absent. Orphan Annie eye nuclear inclusions (nuclei with uniform staining, which appear empty) and psammoma bodies seen on light microscopy are characteristic for PTC. The former is useful in identifying the follicular variant of papillary thyroid carcinomas. The morphologic diagnosis is based upon an aggregate of typical cytological features which itself is a pathognomonic feature of PTC. The nuclei are large, oval, and appear crowded and overlapping on microscopic sections. They may contain hypodense powdery chromatin, cytoplasmic pseudoinclusions due to a redundant nuclear membrane, or nuclear grooves. Lymphatic spread is more common than hematogenous spread. The so-called lateral aberrant thyroid is actually a lymph node metastasis from papillary thyroid carcinoma.
Most patients with papillary cancer do not succumb to disease itself. Variant forms of papillary cancer include the follicular variant (about 10%) and the tall-cell variant (a more aggressive tumor, 1%).255
zoom view
Figures 5A to D:  
  1. DM, TMK, Khan DM, et al. Follicular variant of papillary thyroid carcinoma: cytological indicators of diagnostic value. J Clin Diagn Res. 2014;8(3):46–8.
  1. Schneider AB, Sarne DH. Long-term risks for thyroid cancer and other neoplasms after exposure to radiation. Nat Clin Pract Endocrinol Metab. 2005;1:82–91.
56CASE 23
A 75-year-old lady presented with a progressive swelling in front of the neck for 30 years. There was no history of hyperthyroidism or hypothyroidism. There were no pressure symptoms like dysphagia or hoarseness of voice. She complained of a choking feeling for the past 2 years, when she lies flat in bed. Her husband and three of her children were taking medicines for hypothyroidism. On examination, she had a 10 × 8 cm size, firm swelling in front of the neck which was more on the right side, which moved up with deglutition. There was no retrosternal extension but the trachea was deviated to left side.
The diagnosis was that of a dominant nodule in a multinodular goiter. The patient underwent a total thyroidzectomy and the surgical specimen was diagnosed to be a follicular variant of papillary carcinoma involving left lobe. Hürthle cell nodules were also evident in the left lobe. Postsurgery, she was put on suppressive doses of thyroxine.
The following year an ultrasound neck was done which showed enlarged lymph nodes (Figure 1). She underwent 131I whole body scan which revealed a residual thyroid (Figure 2). She was then admitted for 131I ablation.
After 6 months she was found to have elevated serum thyroglobulin and a repeat 131I whole body scan there was an increased tracer activity in the left thyroid region and T6 thoracic vertebrae which is highly suggestive of skeletal metastases (Figure 3).
This patient was given 100 mci of 131I and then kept on suppressive dose of thyroxine, with regular follow-up.
The importance in the management of thyroid cancer is early identification of those patients with more advanced or high-risk disease requiring aggressive treatment. The revision of the tumor, node, and metastasis (TNM) staging; and American Thyroid Association risk stratification systems has changed the categories of many patients in recent times. The main follow up tools for those had treatment for PTC are ultrasonography of the neck US and stimulated serum Thyroglobulin levels.
RAI-refractory PTC needs alternative treatment protocol for the control of the disease. In these patients treatment with tyrosine kinase inhibitors (TKIs) such as Sorafenib or Lenvatinib may be considered. However Sorafenib is a time tested drug with good response been shown in these patients with TENIS (Thyroglobulin elevation with Negative Iodine Scintigraphy).1,2
zoom view
Figure 1: Postoperative ultrasonography (USG) of the neck showing level 3 cervical lymph nodes (shown with an arrow).
zoom view
Figure 2: Thyroid whole body scintigraphy showing a mild tracer uptake in the thyroid bed suggestive of mild residual thyroid (shown with an arrow).
(SSN: suprasternal notch).
zoom view
Figure 3: Thyroid whole body (WB) scintigraphy done 6 months later, showing tracer accumulation in the left side of the neck and in the region of the T6 vertebra, suggestive of functioning metastases to the left supraclavicular lymph node (shown with white arrow) and the T6 vertebra (shown with black arrow).
  1. Araque KA, Gubbi S, Klubo-Gwiezdzinska J. Updates on the Management of Thyroid Cancer. Horm Metab Res. 2020 Feb 10.
  1. Jayarangaiah A, Sidhu G, Brown J, et al. Therapeutic options for advanced thyroid cancer. Int J Clin Endocrinol Metab. 2019;5(1):26–34.
58CASE 24
A 60-year-old lady presented with swellings on head for the past 2 years and in front of her neck for the past 6 years (Figure 1).
On further history she had symptoms of hypothyroidism (lethargy, tiredness) and complained of pain in the swelling of the head. She also complained of lower back ache.
On examination, the neck swelling moved up with deglutition and was bilateral and diffusely enlarged, the surface of which was irregular. She also had multiple enlarged cervical lymph nodes.
On investigations, the Chest X-ray showed multiple well defined infiltrates bilaterally (Figure 2). Whole body uptake scan showed increased uptake in both the lungs (Figure 3). The clinical picture was highly suggestive of a thyroid primary malignancy with distant metastases. A fine needle aspiration (FNA) biopsy revealed epithelial cells arranged in a pattern of microfollicles, scant or absent colloid, and few macrophages and defined the lesion of follicular lesion of undetermined significance.
With the clinical picture and investigations she was diagnosed with follicular thyroid carcinoma with distant metastasis.
zoom view
Figure 1: Clinical picture of the patient with skull and neck swellings.
zoom view
Figure 2: Metastasis to the lungs.
zoom view
Figure 3: Lung metastasis (arrows) on whole body uptake scan.
Follicular thyroid cancer is the second most common type of thyroid cancer after papillary thyroid cancer (PTC).1 Follicular thyroid cancer typically spreads via hematogenous dissemination. Common sites of distant metastases are bone (with lytic lesions) and lung and, less commonly, the brain, liver, bladder, and skin. Unlike PTC, FNA biopsy cannot diagnose or distinguish between the follicular adenomas and cancers. Microscopically, the diagnosis of follicular cancer requires distinguishing adenoma from cancer, through identification of tumor extension through the tumor capsule and/or vascular invasion, given the fact that follicular cancer commonly occurs in older patients and is more often associated with an aggressive clinical course and distant metastases. It has higher mortality than PTC.2
  1. D'Avanzo A, Treseler P, Ituarte PH, et al. Follicular thyroid carcinoma: histology and prognosis. Cancer. 2004;15;100(6):1123–9.
  1. Machens A, Holzhausen HJ, Dralle H. The prognostic value of primary tumor size in papillary and follicular thyroid carcinoma. Cancer. 2005;1;103(11):2269–73.
60CASE 25
A 48-year-old lady presented to our clinic with a history of progressive, painless swelling in front of the neck over the past 25 years. However, more recently, she had developed dyspnea on exertion with hoarseness of her voice. She was not known to have hypertension or any associated skin lesions.
Upon examination, she was found to have thyroid swelling of 10 × 7 cm which was of variegated consistency. She had stridor on palpation of the gland (Figure 1A). Pemberton's sign was positive (Figure 1B). There were no other clinical features.
An ultrasound of the neck revealed bilateral thyroid masses with heterogeneous echotexture, central pattern of vascularity, macro- and microcalcifications. Chest X-ray showed deviated trachea with probable compression or infiltration of the trachea (Figure 2). Fine-needle aspiration cytology (FNAC) of the thyroid showed amyloid deposits in the background of colloid and the cells were positive for calcitonin (Figures 3 and 4).
Computed tomography (CT) scan neck showed a thyroid mass with infiltration of the trachea (Figure 5).
Based on the clinical, pathological, and radiological findings, she was diagnosed with medullary thyroid carcinoma (MTC) with tracheal invasion.
zoom view
Figures 1A and B: (A) Thyroid swelling and (B) Pemberton's sign.
zoom view
Figure 2: Chest X-ray showing deviation of the trachea to the right side.
zoom view
Figure 3: Amyloid deposits in the background of colloid (arrow).
zoom view
Figure 4: Well demarcated collections of calcitonin staining cells.
zoom view
Figures 5A to C: Serial sections of the CT scan of the neck showing a large heterogeneously enhancing thyroid mass infiltrating the trachea (black arrow) and left internal jugular vein (white arrow).
Subsequently, she underwent total thyroidectomy with central compartment dissection and resection and anastomosis of the tracheal infiltration segment.
Medullary thyroid carcinoma is an uncommon neuroendocrine malignancy that accounts for 5% of all the thyroid cancers.1 MTC presents in sporadic and familial forms [multiple endocrine neoplasia (MEN) 2A, MEN 2B, or familial MTC syndromes]. The familial forms are secondary to germline mutations in the REarranged during Transfection (RET) proto-oncogene. Early diagnosis and treatment is most important. Genetic testing has made possible, the early detection in asymptomatic carriers and high-risk patients, with early or prophylactic surgery being curative in many. All carriers of an RET mutation should be evaluated and treated surgically for MTC. The primary treatment in all patients diagnosed with MTC is total thyroidectomy with central lymph node dissection.2
Calcitonin and carcinoembryonic antigen (CEA) levels can be used as prognostic factors and as tumor markers. If elevated, further investigation, including use of imaging modalities, may be necessary for evaluation of metastatic disease.62
  1. Finny P, Jacob JJ, Thomas N, et al. Medullary thyroid carcinoma: a 20-year experience from a centre in South India. ANZ J Surg. 2007;77(3):130–4.
  1. Griebeler ML, Gharib H, Thompson GB. Medullary thyroid carcinoma. Endocr Pract. 2013;19(4):703–11.
63CASE 26
A 56-year-old non-smoking farmer presented to our thyroid clinic with the rapid progression of the thyroid swelling over the past 20 days with simultaneous hoarseness of voice during the same period. He had a thyroid swelling for the past 20 years whose size was static in nature (Figure 1).
Clinical examination showed a massive deviation of the trachea to the left side with a predominant right lobe thyroid enlargement. Chest X-ray image is shown in Figure 2.
This gentleman had probable anaplastic carcinoma clinically in view of the rapid progression of the symptoms. The hoarseness of voice could be well due to the external laryngeal nerve involvement. The Chest X-ray showed a massive deviation of trachea to the left side.
The computed tomography (CT) scan neck and thorax showed a large heterogeneously enhancing mass with chunky calcifications in the right lobe of thyroid measuring 5.9 × 8 × 12 cm (Figure 3).
The patient underwent a trucut biopsy of the right lobe of thyroid which was also suggestive of a possible anaplastic carcinoma of the thyroid and the patient was advised external beam radiotherapy.
zoom view
Figure 1: Thyroid swelling with deviation of the trachea.
Anaplastic thyroid cancers are undifferentiated tumors of the thyroid follicular epithelium. In marked contrast to the differentiated thyroid cancers, anaplastic cancers are extremely aggressive, with a disease-specific mortality approaching 95%. The few exceptions are patients whose tumors are small and who are treated very aggressively. Approximately 20% of patients have a history of differentiated thyroid cancer and 20–30% have a coexisting differentiated cancer. The primary symptom of anaplastic cancer is a rapidly enlarging neck mass, occurring in about 85% of patients.1
The diagnosis of anaplastic cancer is usually established by cytologic examination of cells which show spindle cells, pleomorphic giant cells, and/or squamoid. Many anaplastic thyroid cancers have a mixed morphology of two or all three patterns. For patients with a small intrathyroidal anaplastic cancer associated with a differentiated thyroid cancer, we suggest total thyroidectomy. Total thyroidectomy will facilitate subsequent treatment of the differentiated thyroid cancer. However, for the rare patients with intrathyroidal anaplastic thyroid cancer, without a coexistent well-differentiated thyroid cancer component, thyroid lobectomy with wide margins of adjacent soft tissue by the side of the tumor is an appropriately aggressive alternative surgical approach.2
zoom view
Figure 2: Chest radiograph showing a large soft tissue density mass in the right side of the neck causing compression and deviation of the trachea to the left side.
zoom view
Figure 3: Computed tomography (CT) showing a large right thyroid mass (shown with an arrow) with areas of necrosis and calcifications.
  1. Neff RL, Farrar WB, Kloos RT, et al. Anaplastic thyroid cancer. Endocrinol Metab Clin North Am. 2008;37:525–38.
  1. Smallridge RC, Copland JA. Anaplastic thyroid carcinoma: pathogenesis and emerging therapies. Clin Oncol (R Coll Radiol). 2010;22:486–97.
A 34-year-old lady presented with an insidious onset and slowly progressive neck swelling for over 12 years. She did not have features suggestive of either hypothyroidism or hyperthyroidism. There was no previous history of pressure symptoms.
On physical examination there was a 3 cm × 4 cm submental swelling which moved on deglutition and protrusion of the tongue (Figures 1A and B). The swelling was variegated in consistency with cystic and few firm areas. She did not have any lymph nodal enlargement.
Her thyroid function tests were normal. Ultrasound of the neck showed a complex cystic lesion with an irregular papillary solid component with microcalcifications in the midline of the neck at the level of hyoid bone. The normal thyroid gland was separately seen.
Figures 2A and B could represent malignancy in a thyroglossal cyst.
zoom view
Figures 1A and B: Submental neck swelling.
zoom view
Figures 2A and B: Ultrasound of the neck (A) Midline subhyoid complex cystic lesion with irregular solid component and microcalcification and (B) Normal thyroid gland.
zoom view
Figure 3: Papillae (finger-like projections) suggestive of papillary carcinoma of thyroid.
Subsequently, she underwent fine-needle aspiration cytology (FNAC) which showed clusters of colloid and psammoma bodies with occasional follicular cells suggestive of papillary carcinoma thyroid in a thyroglossal cyst (Figure 3). She underwent a Sistrunk operation with total thyroidectomy for the swelling and was put on replacement doses of thyroxine.
The thyroglossal duct cyst (TGDC) is the most common anomaly associated with thyroid development. The thyroid gland descends from the foramen cecum to a point below the thyroid cartilage and leaves an epithelial tract known as the thyroglossal tract. The tract disappears during the 5th to the 10th gestational week. Incomplete atrophy of the tract forms the basis of origin of the cyst.1 Malignancy within a TGDC is rare and occurs in only about 1.5% of cases, and diagnosis is usually made postoperatively as clinically it may be difficult to distinguish from benign neoplasms. Features that should arouse suspicion of malignancy include large or increasing size, hardness, fixity, irregular shape, and previous exposure to ionizing radiation. There is no role for routine FNAC of a TGDC in the absence of suspicious features.2
  1. Aculate NR, Jones HB, Bansal A, et al. Papillary carcinoma within a thyroglossal duct cyst: significance of a central solid component on ultrasound imaging. Br J Oral Maxillofac Surg. 2014;52(3):277–8.
  1. Senthilkumar R, Neville JF, Aravind R. Malignant thyroglossal duct cyst with synchronous occult thyroid gland papillary carcinoma. Indian J Endocrinol Metab. 2013;17(5):936–8.
68CASE 28
A 69-year-old lady, who was known to have type 2 diabetes mellitus (T2DM), hypertension and coronary artery disease presented with neck swelling for a duration of 9 years (Figure 1). The swelling was cystic in nature and was pulsatile. There was no history suggestive of either hypothyroidism or hyperthyroidism. There was no history of associated pressure related symptoms. On examination, the thyroid gland was normal in size. There was no tracheal tug and the swelling did not move up with deglutition or protrusion of the tongue. Thyroid function tests were normal.
A color Doppler of the swelling revealed dilatation of the right innominate artery, which was suggestive of an aneurysm. This swelling was mimicking a thyroid swelling (Figure 2). This is a unique patient wherein the aneurysms of the innominate artery (AIA) presented as a thyroid swelling. Since she was clinically and biochemically euthyroid, she was referred to vascular surgery department for further management.
Here are some differential diagnoses for a neck mass:
Congenital neck mass:1,2
  • Branchial cleft cyst
  • Thyroglossal duct cyst (TGDC)
  • Vascular anomalies
  • Laryngocele
  • Ranula
  • Teratoma
  • Dermoid cyst
  • Thymic cyst
Inflammatory neck mass:
  • Infectious inflammatory disorders
    • Reactive viral lymphadenopathy
    • Bacterial lymphadenopathy
    • Parasitic lymphadenopathy
  • Noninfectious inflammatory disorders
Neoplastic disorders:
  • Metastatic head and neck carcinoma
  • Thyroid masses
  • Salivary gland neoplasm
  • Paragangliomas
  • Schwannoma
  • Lymphoma
  • Lipoma and benign skin cysts.
zoom view
Figure 1: Cystic neck swelling (shown with an arrow).
zoom view
Figure 2: Color Doppler showing a right innominate artery dilatation (arrow).
  1. Kraus R, Han BK, Babcock DS, et al. Sonography of neck masses in children. Am J Roentgenol. 1986;146(3):609–13.
  1. Josephson GD, Spencer WR, Josephson JS. Thyroglossal duct cyst: the New York Eye and Ear Infirmary experience and a literature review. Ear Nose Throat J. 1998;77(8):642–4, 646–7, 651.
1. A 26-year-old lady presents with recurrent episodes of palpitations over a period of 3 years. Clinical examination reveals a smooth symmetrical goiter, just visible in the anterior part of the neck. Biochemical tests show a total T4 of 19.0 µg/dL (Normal 4.5–11.5 µg/dL) and a TSH of 8.0 mIU/mL (Normal 0.5–4.5 mIU/mL). Which of the following is FALSE:
  1. It could be a TSH producing tumor
  2. It could be thyroid hormone receptor resistance
  3. The biochemical values could be present in a euthyroid normal pregnancy
  4. A visual field test may be indicated
2. All of the following are associated with normal/raised radioactive iodine uptake activity over the neck with an intact thyroid, EXCEPT:
  1. Graves’ disease
  2. Trophoblastic disease
  3. Thyroid hormone resistance
  4. Excessive metastasis from thyroid cancer
3. All of the following therapies are useful in the management of thyroid eye disease, EXCEPT:
  1. Azathioprine
  2. Etanercept
  3. Selenium
  4. Chromium
4. All of the following drugs are associated with thyroiditis, EXCEPT:
  1. Amiodarone
  2. Interferon alpha
  3. Interleukin-2
  4. Amitriptyline
5. All of the following mutations are described in follicular carcinoma, EXCEPT:
  1. RAS
  2. PAX8
  3. PPAR gamma
  4. BRAF
6. Hyperthyroidism in children, all of the following statements are true EXCEPT:
  1. Sufficient 131I therapy is advisable for GD management as a single dose to reach a state of hypothyroidism
  2. Pediatric patients with Graves’ disease who are not in remission following 1–2 years of methimazole therapy should be considered for treatment with RAI therapy/thyroidectomy
  3. 131I therapy should be completely avoided in children less than 5 years
  4. PTU is associated with a lower number of reported side effects pertaining to hepatotoxicity in children
7. All of the following drugs are associated with thyroiditis, EXCEPT:
  1. Amiodarone
  2. Interferon alpha
  3. Interleukin-2
  4. Amitriptyline
8. All of the following can be secreted by medullary carcinoma thyroid EXCEPT:
  1. Carcinoma embryonic antigen
  2. Somatostatin
  3. Cortisol
  4. TRH
9. A 23-year-old lady presented with features suggestive of thyrotoxicosis. Her evaluation for the same with blood investigations and nuclear medicine studies are suggestive of thyrotoxicosis factitia. Which one of the following is not a feature of thyrotoxicosis factitia?
  1. Suppressed—TSH, and elevated T4 and FT4
  2. Elevated thyroglobulin level
  3. Low radioiodine uptake
  4. Absent thyroid autoantibodies
10. A 25-year-old lady with bipolar disorder has been on lithium therapy since 2 years. She is married for 4 years and has not conceived yet. She has also a recent history of polydipsia, weight loss, and palpitation. She was referred by the psychiatry department for further evaluation. Which of the following endocrine disorder is NOT common with long-term lithium therapy?
  1. Hypothyroidism
  2. Thyrotoxicosis
  3. Nephrogenic diabetes insipidus
  4. Hypocalcemia
11. An 18-year-old lady presented with painful thyroid swelling since 2 weeks. On examination, she has a grade-2 thyroid swelling with tenderness. Her blood investigation revealed TSH—0.34 µIU/mL (Normal 0.5–4.5 mIU/mL). T4 of 12.5 µg/dL (Normal 4.5–11.5 µg/dL), FT4 of 1.8 ng/dL (Normal 0.8–1.8 ng/dL), and a high ESR. Radioiodine uptake study showed 10% uptake at 24 hours. She was initially treated with naproxen 1 tab twice daily for 1 week. However, she continued to have pain, so later on she was treated with prednisone. All of the following are the indications of prednisolone (steroid) therapy in thyroid disorders EXCEPT:
  1. Hashimoto's encephalopathy
  2. Thyrotoxicosis storm
  3. Myxedema coma
  4. Prior to radioiodine therapy in the absence of eye disease
12. All of the following clinical condition are associated with increase in radioiodine uptake in the region of thyroid EXCEPT:
  1. Graves’ disease
  2. Metastatic thyroid cancer
  3. Choriocarcinoma
  4. Struma ovarii
13. A 60-year-old lady, a known patient of Hashimoto's thyroiditis, primary hypothyroidisms presented with rapidly increasing thyroid swelling since 3 months. The thyroid swelling 70was associated with pressure symptoms and pain. On examination, both lobes of the thyroid were enlarged (right was larger than left). FNAC of the thyroid was suggestive of lymphoma. Which type of lymphoma is more common in the setting of Hashimoto's thyroiditis?
  1. Adult T-cell lymphoma
  2. Mixed cellularity Hodgkin's lymphoma
  3. Hairy cell leukemia
  4. MALT lymphoma
14. A 34-year-old lady, teacher by profession, presented with history of a thyroid swelling since 2 years. On examination, the thyroid swelling appears firm to hard in consistency and there were no palpable lymph nodes. The FNAC of thyroid nodule was suggestive of medullary carcinoma. She had no prior family history of thyroid carcinoma. She is married with 3 children. Her genetic analysis showed mutation at codon 609. Monitoring of kindred with positive for RET mutation include all EXCEPT:
  1. Annual monitoring of stimulated calcitonin
  2. Annual monitoring of urinary metanephrines and normetanephrines
  3. 1–2 yearly monitoring of serum calcium and iPTH levels
  4. Annual monitoring of prolactin level
15. A 45-year-old gentleman presented with thyroid swelling since 5 years. Patients noticed that the size of swelling increased 1 and ½ times recently. On examination, there was a large nodule of size >3 cm on the right upper pole of thyroid and clinically there was no significant lymph node enlargement. His ultrasound of the thyroid showed a TIRAD score of 4C. Which of the following is not a feature of this scoring system?
  1. Solid component
  2. Markedly hyperechoic nodule
  3. Taller than wider shaped nodule
  4. Microcalcification
16. All of the following clinical conditions can be associated with an increase in radioiodine uptake EXCEPT:
  1. Graves’ disease
  2. Metastatic thyroid cancer
  3. Choriocarcinoma
  4. Struma ovarii
17. A 34-year-old lady, a known case of Graves’ disease diagnosed since 3 years, but on irregular treatment with antithyroid drugs. Simultaneously she had developed prominence of her both eye balls which was associated with redness off and on. Since last 1 month she noticed rapid deterioration of her vision in her right eye. All of the following are the causes of rapid deterioration of vision in Graves’ ophthalmopathy EXCEPT:
  1. Globe subluxation
  2. Exposure keratitis
  3. Central serous retinopathy
  4. Optic nerve compression
18. A 23-year-old male was evaluated for his thyroid disorders. His thyroid function revealed TSH—8µIU/mL, T4 of 15.2 µg/dL (Normal 4.5–11.5 µg/dL) and FT4 of 3.2 ng/mL (Normal 0.8–1.8 ng/mL). He had no history of prior medication. He was diagnosed with Refetoff syndrome based on clinical features and biochemical evidence. In which clinical condition does thyroid hormone function simulate like a thyroid hormone resistance syndrome?
  1. Sick euthyroid syndrome
  2. Thyrotoxicosis factitia
  3. TSH secreting pituitary tumor
  4. Grave's thyrotoxicosis
19. Mark True/False for the following statements on management of thyroid nodules during pregnancy:
  1. Surgery for suspected PTC detected during pregnancy is best operated around 24 weeks. True/False
  2. It may be beneficial to use thyroxine in a suppressive dose to maintain TSH between 0.1–1 mIU/L. True/False
  3. TSH levels if suppressed in first trimester will require a RAI uptake study after delivery. True/False
  4. TSH receptor antibody is useful in differentiating Graves’ disease versus thyroiditis. True/False
20. Mark True/False on the following statements on thyroid nodules:
  1. Thyroglobulin is a sensitive and specific test for diagnosis of thyroid carcinoma. True/False
  2. The risk of malignancy in FNAC reported as suggestive of malignancy could be as high as 96%. True/False
  3. Ultrasound-guided FNAC is recommended for those nodules that are nonpalpable, cystic, and anteriorly placed. True/False
  4. Molecular markers like galectin-3 can be used to identify high-risk patients with indeterminate cytology. True/False