Index

Case Based Reviews in Pediatric Endocrinology Vandana Jain, Ram K Menon

SECTION 1: DISORDERS OF GROWTH, SEXUAL DEVELOPMENT, AND PUBERTY
CHAPTER 1:Short Stature
- Q: Does he have short stature?
- Q: What are the most important points to elicit in his history and physical examination?
  - History
  - Physical examination
- Q: How do you interpret his growth velocity and absolute height?
- Q: How do you interpret his bone age?
- Q: What is the midparental target height for the child described above?
- Q: What is the most likely diagnosis?
- Q: What is the most appropriate next step?
- Q: What is the differential diagnosis for pathologic causes of short stature?
- Q: What laboratory studies would you consider obtaining?
- Q: Her TSH is greater than 1000 mIU/L and free T4 is 0.2 ng/dL. What role does thyroid hormone play in growth? Is her early menarche related to her diagnosis?
- Q: If her thyroid tests and screening tests for chronic diseases (e.g., renal, liver) were normal, what diagnosis would a low IGF1 and IGFBP3 be suggestive of?
- Q: What are the criteria to make a diagnosis of GH deficiency (Box 1)?
- Q: What are the causes of GH deficiency?
- Q: How do you treat GH deficiency?
- Q: What are the side effects of GH treatment?
- Q: How do you interpret his growth chart (Figure 4)?
- Q: What laboratory studies do you want to include in your evaluation?
- Q: How do you interpret his growth chart?
- Q: Is his history of asthma likely related to his short stature?
- Q. What is the differential diagnosis?
- Q. Is there a confirmatory test for Russell-Silver Syndrome?
- Q. What is the role of GH in the management of a child born SGA?
CHAPTER 2:Disorders of Sex Development
- Q: What is the working diagnosis at this stage of evaluation?
- Q: What laboratories and imaging studies should be carried out now to ascertain the likelihood in the differential diagnosis?
- Q: Initial laboratories revealed that our patient has the following: LH level is 24 mIU/mL (ref. range: 0.4–11.7 for her age in females), FSH level is 16 mIU/mL (ref. range: 11.8–18.6 for her age in females), total testosterone level is 520 ng/dL (ref. ranges: 20–38 for age in females; 350–970 for age in males), estradiol level is 54 pg/mL (ref. range: 34–170 for her age in females), karyotype is 46,XY. The rest of the laboratories are unremarkable. Pelvic ultrasound revealed two oval-shaped masses suspicious for testes and failed to visualize uterus or ovaries. Bone age is 13 years using the female standards. DHT is still pending. What should you do next?
- Q: A previously reported disease-causing hemizygous mutation in the AR gene is identified in our patient. What are the key points in the pathophysiology and the clinical management?
- Q: What is the most likely in the differential diagnosis and what should be done at this time?
- Q: The pelvic ultrasound visualized uterus and no testes are found. The state newborn screening laboratory reports positive result for CAH. The laboratory at the hospital reports an ether-extracted 17-OHP level of 52,500 ng/dL (normal range <600 ng/dL). Karyotype is reported to be 46,XX. The baby is still feeding well without vomiting. Electrolytes remain normal until day number six of life when the serum sodium trends downward to reach a nadir of 133 mEq/L and potassium rises to 5.6 mEq/L. What is the diagnosis?
- Q: What are the other causes of virilization in a 46,XX infant?
- Q: What is the most likely in the differential diagnosis and what should be done at this time?
- Q: Karyotype is reported to be 46,XY. Pelvic ultrasound failed to visualize uterus or ovaries. Total testosterone level is 310 ng/dL, 5α-DHT level is 17 ng/dL, D4A level is 120 ng/dL. All other laboratories are unremarkable. What is the biochemical diagnosis and how can you confirm it?
- Q: The molecular analysis of 5-ARD-2 gene revealed two compound heterozygous disease-causing mutations, establishing the diagnosis of 5α-reductase deficiency. What does it mean for our patient?
- Q: What is the risk of germ cell tumors in DSD?
- Q: What biological markers for germ cell tumors in DSD are currently used?
- Q: How is tumor surveillance performed after the primary therapy for germ cell tumors?
CHAPTER 3:Puberty and its Disorders
- Q: Is this “normal” puberty?
  - Review of normal puberty
- Q: What are the key elements in the history and physical examination if one suspects precocious puberty?
  - History
  - Physical examination
- Q: How is adrenarche discriminated from gonadarche (sex steroid production by the gonad) and the onset of puberty?
- Q: What aspects of the physical examination are critically important for building a differential diagnosis and what additional studies would help guide clinical decision making?
  - Key physical examination findings
  - Additional studies
- Q: How are children with central and peripheral precocious puberty managed?
- Q: What are the relevant aspects of history and physical examination for evaluation of suspected delayed puberty in this patient?
  - History
  - Physical examination
- Q: What causes of pubertal delay would you consider at this point?
- Q: How would you proceed with the work-up for delayed puberty?
- Q: How would you treat this patient?
- Q: What questions are important to ask in cases of primary amenorrhea?
  - History
  - Physical examination
- Q: What are the possible causes of primary amenorrhea?
- Q: What further testing would you order to evaluate the cause for her amenorrhea?
- Q: What is treatment for Turner syndrome?
CHAPTER 4:Hyperandrogenism in Girls
- Q: What are the clinical manifestations of androgen excess in girls?
- Q: What is hirsutism?
- Q: How is severity of hirsutism assessed?
- Q: Does this girl have clinical evidence for hyperandrogenism?
  - Investigations
- Q: What is hyperandrogenism?
- Q: What do the investigations in the above case suggest?
- Q: How should this girl be managed?
- Q: What is polycystic ovary syndrome?
- Q: What does the history and physical examination for this child suggest?
- Q: What other information in history is useful?
  - Investigations
- Q: What are the causes for androgen excess among girls?
- Q: What is premature adrenarche?
- Q: What is the treatment?
- Q: What features differentiate tumoral androgen excess from other causes of hyperandrogenism?
- Q: What does this history suggest?
- Q: What physical features will you look for?
- Q: What investigations should be done?
SECTION 2: DISORDERS OF THYROID AND ADRENAL GLANDS
CHAPTER 5:Thyroid Disease
- Q: What is your differential diagnosis?
- Q: What laboratory and imaging studies would you include in your evaluation?
- Q: This child has a suppressed TSH, elevated FT4 and T3. Her TSIs and thyroid peroxidase antibody are both positive. Radioiodine uptake is increased, confirming the diagnosis of Grave's disease. What are this child's treatment choices?
  - Treatment choices
- Q: Her TSH is 412 mIU/L with a free T4 of 0.3 ng/dL. Her thyroid peroxidase antibody is positive, which gives her a diagnosis of Hashimoto's thyroiditis. What signs and symptoms on physical exam are important to note and monitor?
- Q: Treatment with levothyroxine is started. What are the goals of therapy and what potential side effects can happen?
- Q: How is the etiology of the congenital hypothyroidism determined? (Table 3)
- Q: How do you start treatment/monitoring?
- Q: What laboratory studies would you order?
- Q: What are his treatment options?
- Q: What medical issues is she at risk for and what laboratory studies do you include in your evaluation?
- Q: When would you recommend a thyroidectomy?
CHAPTER 6:Congenital Adrenal Hyperplasia
- Q: What is the clinical diagnosis?
- Q: What is CAH? How common is it?
- Q: How do children with CAH present?
- Q: What are the points to be elicited in the history in such a case?
- Q: What features should be looked for on clinical examination?
  - Diagnosis of congenital adrenal hyperplasia
- Q: What are the investigations advised in CAH? (Box 2)
- Q: How do we treat these children? (Box 3)
- Q: Is surgical correction for atypical genitalia required in all cases? What is the appropriate age for referral?
- Q: How do we monitor patients on therapy?
- Q: What are the long-term issues in management?
CHAPTER 7:Adrenal Insufficiency
- Q: What are the signs and symptoms that may indicate adrenal crisis?
- Q: How should adrenal crisis be managed?
- Q: What are the hormones secreted by the adrenal gland and how are they regulated?
- Q: What are the clinical manifestations of adrenal hormonal deficiency?
- Q: What are the causes of adrenal insufficiency?
- Q: What is the importance of family history, sex, and age at onset of disease in delineating the etiology?
- Q: What are the other important points in history and clinical examination for delineating the etiology?
- Q: What are the investigations to be done to confirm adrenal insufficiency and its etiology?
- Q: How do we supplement glucocorticoid and mineralocorticoid hormones in adrenal hormone deficiency?
  - Learning point from this case
CHAPTER 8:Cushing Syndrome
- Q: What are the endocrine causes of obesity? What clinical clue suggests higher likelihood of endocrine etiology of obesity?
- Q: What are the clinical manifestations of cortisol excess state in children?
- Q: What are the various causes of hypercortisolism? Also comment on their epidemiological profile.
- Q: What are the various screening tests available for evaluation of suspected endogenous hypercortisolism?
- Q: How is the source of endogenous hypercortisolism determined?
- Q: What are the treatment goals in a case of CD? Describe the various treatment modalities available to achieve cure.
- Q: What are the management issues after cure in case of CD postremission?
CHAPTER 9:Pheochromocytoma in Children and Adolescents
- Q: What is pheochromocytoma? How common is it in children?
- Q: How is hypertension defined in children? What are its important causes?
- Q: When should one suspect pheochromocytoma in a child presenting with hypertension?
- Q: What are the unusual clinical presentations of pheochromocytoma?
- Q: How is the disease inherited/acquired?
- Q: How is the diagnosis of pheochromocytoma confirmed?
- Q: What are the conditions that can affect the collection of the sample or catecholamine levels?
- Q: How are these tumors localized?
- Q: What is the presurgery medical management?
- Q: Surgery is the definitive therapy. What are the guiding principles for surgery?
- Q: How difficult is surgery for pheochromocytoma?
- Q: When should the patient be investigated again after surgery?
- Q: What options do we have for nonoperable tumors?
- Q: How is malignant pheochromocytoma diagnosed?
SECTION 3: DISORDERS OF CARBOHYDRATE METABOLISM
CHAPTER 10:Hypoglycemia in Infants and Children
- Q: What further key investigations are indicated in this child with hypoglycemia?
- Q: What would be the differential diagnosis of hypoglycemia in this infant?
  - Q: What further evaluation will be required for this child? What would be the approach to treatment?
- Q: What is the most likely diagnosis for hypoglycemia in this infant?
- Q: What are the clinical features of hypopituitarism in an infant?
- Q: What would be the management of multiple pituitary hormone deficiencies in this infant?
- Q: What could be the cause for this elevated serum sodium and deterioration in clinical condition? How should this be managed?
- Q: What further intervention would be required to maintain euglycemia in this infant?
- Q: What would be the recommended approach to manage undescended testes and micropenis?
- Q: What is the recommended follow-up plan for children with SOD?
- Q: What are the important causes of recurrent and persistent hypoglycemia in neonates?
- Q: What would be the management of hypoglycemia in this infant?
- Q: What would be the interpretation of these results?
- Q: What is congenital hyperinsulinism?
- Q: What are the potential causes of hyperinsulinemic hypoglycemia in infants?
- Q: What specific medical treatment options are available for CHI?
- Q: What further investigation is recommended to manage this infant?
  - Role of genetic investigation in the diagnosis of congenital hyperinsulinism
- Q: What is the role of 18F-DOPA-PET/CT scan in the diagnosis of CHI?
- Q: What would be the next step of management in this infant?
- Q: What is the role of histology in this infant?
- Q: What are the important aspects to be considered for this infant prior to discharge from the hospital?
- Q: What clinical and biochemical features in an infant with hypoglycemia will suggest possibilities of inherited errors of metabolism (IEM)?
CHAPTER 11:Type 1 Diabetes Mellitus
- Q: How is diabetes in children and adolescents diagnosed and classified?
  - Diabetes mellitus is classified as
- Q: The child in the above case scenario was poorly managed. What are the principles of management of type 1 diabetes (T1D) in children and adolescents?
- Q: What are the key aspects of insulin therapy in patients with T1D (insulin preparations, dose, regimes, mode, and site of administration)?
- Q: How should the glycemic control be monitored in children and adolescents with T1D?
- Q: What are the important aspects of nutritional counseling for children and adolescents with T1D?
- Q: What are the key points in diabetes education that should be imparted to the patient/family at diagnosis and during subsequent visits?
- Q: What are the recommendations regarding follow-up and monitoring for complications?
- Q: What is hypoglycemia and how should this be managed?
- Q: What are the guidelines for management on sick days?
- Q: The index case had celiac disease and her sibling had nephrotic syndrome along with T1D. What is the prevalence of other autoimmune diseases in patients with T1D?
- Q: In the case presented above, two siblings had type 1 diabetes. What is the risk of T1D in siblings and offspring of index case with T1D? Can the risk be predicted for an individual?
- Q: What are the complications that may arise from long-term poor metabolic control?
- Q: What is the diagnosis? What emergency assessment is needed?
- Q: How is DKA managed?
- Q: What is cerebral edema? How is it diagnosed and managed?
- Q: The child presented as Case 1 had recurrent DKA. What are the known risk factors for recurrent DKA in children?
CHAPTER 12:Monogenic and Neonatal Diabetes
- Q: What would you seek in the history from this child and family?
- Q: What are the relevant assessments on clinical examination?
- Q: Are there bedside tests that would be helpful?
- Q: What is your differential diagnosis with regards to the classification of diabetes in this family? Discuss factors that support and that are against each diagnosis.
- Q: What investigations would help you determine this child's diagnosis?
- Q: What is the most likely diagnosis? Justify your answer.
- Q: How should SV be treated?
- Q: How would you confirm the diagnosis?
  - Learning points
- Q: What is maturity onset diabetes of the young?
- Q: What are the characteristics of maturity onset diabetes of the young?
- Q: When to suspect maturity onset diabetes of the young?
- Q: What are the known genetic mutations in maturity onset diabetes of the young?
  - 1. Genetic defect in β-cell function due to hepatocyte nuclear factor-1 alpha gene mutation
  - 2. Genetic defect in β-cell function due to glucokinase mutations (MODY2)
  - 3. Genetic defect in hepatocyte nuclear factor 4 alpha gene mutations (MODY1)
- Q: What are his diagnoses?
- Q: What are the potential causes of the convulsions?
- Q: What other investigations should you do?
- Q: What is the optimal way to treat his diabetes at this stage?
- Q: In light of this new information (and confirmation of the neonatal diabetes), how would you treat this child?
- Q: What are her diagnoses?
- Q: How would manage this child?
- Q: What is neonatal diabetes?
  - Clinical presentation
  - Laboratory evaluation
  - Management
  - Pancreatic β-cell function
SECTION 4: OBESITY, METABOLIC SYNDROME, AND TYPE 2 DIABETES MELLITUS
CHAPTER 13:Obesity and its Complications Including Impaired Glucose Tolerance and Type 2 Diabetes Mellitus
- Q: What were the clinical features in this case that favor the diagnosis of type 2 diabetes?
- Q: What tests would need to be done to ensure that the diagnosis was correct?
- Q: What caused the hunger after meals?
  - Learning points from case 1
  - Learning points from case 2
- Q: How will you interpret the investigation results in this case?
CHAPTER 14:Metabolic Syndrome in Children and Adolescents
- Q: What are the current problems the patient is having?
- Q: How is metabolic syndrome defined in children?
- Q: What are the pathophysiological mechanisms underlying metabolic syndrome in children?
- Q: What is the importance of pediatric metabolic syndrome in terms of adult outcomes?
- Q: What are the treatment goals and the strategies that would help in achieving the goals in this patient?
- Q: What is the role of pharmacological therapy in pediatric metabolic syndrome?
CHAPTER 15:Genetic/Syndromic Obesity: Prader–Willi Syndrome
- Q: What are the characteristics of obesity in children that should prompt a referral to the geneticist?
- Q: What are the clinical features of some of the relatively common syndromic and monogenic causes of obesity?
- Q: What is the genetic defect in Prader-Willi syndrome?
- Q: What are the clinical criteria for diagnosing Prader-Willi syndrome?
- Q: How is the diagnosis of Prader-Willi syndrome confirmed?
- Q: What is the risk of recurrence of Prader-Willi syndrome in subsequent pregnancies?
- Q: Is there a need for other investigations in patients with Prader-Willi syndrome?
- Q: What is the role of growth hormone therapy in patients with Prader-Willi syndrome?
- Q: What are the endocrine diagnoses? Are these expected or not with Prader-Willi syndrome patients?
- Q: What is the next step in treatment approach?
- Q: What is the next therapeutic approach to such hyperglycemia?
- Q: What happened to the presenting hypertension and edema?
- Q: What is the initial therapeutic approach to the hypovitaminosis D and the osteoporosis?
- Q: What was done for the lipid abnormalities?
- Q: What is the final outcome of these complex issues for this young man?
- Q: What is the final medical message about this young man?
SECTION 5: DISORDERS OF WATER, ELECTROLYTE, AND MINERAL BALANCE
CHAPTER 16:Endocrine Causes of Disturbed Water and Sodium Homeostasis
- INTRODUCTION
- Q: What is your assessment of the baby and the most likely diagnosis?
- Q: What is hyponatremia? What are the common causes of hyponatremia in children?
- Q: How is sodium and water homeostasis maintained in our body?
- Q: What are the clinical manifestations of hyponatremia?
- Q: What are the etiological possibilities for hyponatremia in this case?
- Q: What is SIADH and what are the diagnostic criteria for it?
- Q: What is CSW? How will you differentiate between SIADH and CSW?
- Q: What should be the diagnostic approach towards a child with hyponatremia?
- Q: What are the recommendations for management of hyponatremia?
- Q: What is your assessment of this case?
- Q: What is hypernatremia? What are the clinical manifestations? List the common causes for hypernatremia in children?
- Q: What are the common causes of diabetes insipidus?
  - Central diabetes insipidus
  - Nephrogenic diabetes insipidus
- Q: How should a child with suspected diabetes insipidus be evaluated?
- Q: How is a child with hypernatremia managed?
- Q: How are children with diabetes insipidus managed?
CHAPTER 17:Hypocalcemia in Neonatal Period
- Q: What is the normal calcium homeostasis in the newborn?
- Q: What is the definition of hypocalcemia in the newborn?
- Q: What are the causes of hypocalcemia in the newborn?
- Q: What are the clinical manifestations of hypocalcemia in the newborn?
- Q: What is the diagnostic approach to a newborn with hypocalcemia?
- Q: What further work-up would this child need?
- Q: How should a newborn with hypocalcemia be treated?
CHAPTER 18:Hypocalcemia in Older Children
- Q: What is the normal calcium homeostasis?
- Q: What is the normal serum calcium level?
- Q: What are the causes of hypocalcemia beyond neonatal period?
- Q: What are the clinical features of hypocalcemia?
- Q: How will you evaluate a child with hypocalcemia?
- Q: How should one treat hypocalcemia?
  - Acute management of hypocalcemia
  - Long-term management
CHAPTER 19:Rickets
- INTRODUCTION
- Q: This child has vitamin D deficiency rickets. What is the normal metabolism of vitamin D?
- Q: What are the causes of rickets?
- Q: What are the clinical features of rickets?
- Q: What are the risk factors for vitamin D deficiency?
- Q: What are the stages of vitamin D deficiency rickets?
- Q: What are the radiographic manifestations of rickets?
- Q: What are the mimickers of rickets?
- Q: What are the first line investigations in a child with rickets?
- Q: How will you treat vitamin D deficiency rickets?
- Q: What preparation of vitamin D is used to treat vitamin D deficiency rickets?
- Q: How do you follow-up for healing?
- Q: What if the patient showed no healing after 4 weeks?
- Q: How will you evaluate a child with refractory rickets?
- Q: What are the causes of refractory rickets?
- Q: What are the pointers to non-nutritional etiology of rickets in Case 2?
- Q: What is the likely cause of rickets?
- Q: What are the causes of phosphopenic rickets?
- Q: What is the next step of evaluation?
- Q: How will you distinguish VDDR from XLHR?
- Q: How will you treat a patient with hypophosphatemic rickets?
- Q: The patient was started on phosphate supplementation with 30 mg/kg 6 hourly (Joulie's solution 1 mL = 30 mg, 6 mL 6 hourly) with calcitriol 30 ng/kg/day. What are the goals of follow-up in XLHR?
CHAPTER 20:Hypercalcemia in Children
- Q: What is hypercalcemia?
- Q: What are the differential diagnoses in a child with hypercalcemia?
- Q: What are the manifestations and complications of hypercalcemia?
- Q: How will you approach a child with hypercalcemia?
- Q: What is the cause of hypercalcemia in this boy?
- Q: How will you treat hypercalcemia?
- Q: What is the role of bisphosphonates in hypercalcemia?
SECTION 6: ENDOCRINE MANIFESTATIONS OF SYSTEMIC DISEASES AND INBORN ERRORS OF METABOLISM
CHAPTER 21:Endocrine Complications of Systemic Disease or Their Therapy
- Q: Is there a concern for bone health and does it relate to growth and puberty?
- Q: What are the salient points to elicit from your assessment?
  - History taking
  - Physical examination
  - Q: What tests do you need to perform for assessment of his bone health?
- Q: How do you interpret the laboratory test results?
- Q: How should vitamin D deficiency and secondary hyperparathyroidism be treated?
- Q: How do you interpret these results?
- Q: When would you consider puberty hormone supplementation or puberty induction?
  - Follow-up clinic visit
- Q: How do you assess her height and is it important?
- Q: What are the salient points to elicit from this clinical presentation?
  - History taking
  - Physical examination
- Q: How would you assess bone health in this disabled, wheelchair-bound child status post spinal fusion surgery with a metal rod in situ?
- Q: How do you interpret the results?
- Q: What are the elicited risk factors affecting the bone health of this child?
- Q: What is the best management approach for this child?
- Q: Are short stature and reduced growth velocity likely be related to the previous brain tumor treatment? What are frequent late endocrine effects of brain tumor treatment?
- Q: How can the truncal shortness be explained and further assessed?
- Q: Which additional clinical and laboratory investigations are indicated at this time for this patient?
- Q: Which other endocrine tests are now indicated?
- Q: How can the discrepancy be explained between reduced insulin-like growth factor-1 and normal stimulated growth hormone?
- Q: What are the therapeutic options?
- Q: What are the risks for endocrine late effects after childhood cancer treatment?
- Q: What are the common late effects after Hodgkin's lymphoma treatment?
- Q: What type of diabetes does she have?
- Q: What are the risk factors for developing post-transplant diabetes mellitus in general?
- Q: What are the mechanisms of post-transplant diabetes mellitus?
- Q: What are the recommendations for post-transplant screening and monitoring?
- Q: How can post-transplant diabetes mellitus be prevented?
- Q: How is post-transplant diabetes mellitus managed?
CHAPTER 22:Evaluation of A Child with Suspected Inherited Metabolic Disorder or Developmental Delay
- When should one suspect inborn errors of metabolism in children? How are IEMs classified?
  - Classification of inherited errors of metabolism
- Q: Why is the diagnosis of inherited errors of metabolism challenging?
- Q: In what clinical scenarios should one consider further evaluation for IEMs?
- Q: What are the clues towards underlying IEMs in the family history?
  - Physical examination
- Q: What are the initial screening tests to be done in children with suspected IEMs?
  - Blood tests
  - Urine tests
- Q: What are the advanced screening/ diagnostic tests to be done in children with suspected IEMs?
- Q: How should the parents be counseled?
- Q: How are developmental delay and intellectual disability defined?
- Q: How should a child with developmental delay be evaluated?
- Q: What should be the approach to genetic testing in a child with developmental delay/ID?
- GENETIC COUNSELING
- ADDITIONAL POINTS TO CONSIDER/DEFINITIONS
SECTION 7: ENDOCRINE IMAGING, DYNAMIC ENDOCRINE TESTS, AND GROWTH CHARTS
CHAPTER 23:Radiological Imaging in Pediatric Endocrine Disorders
- Q: What is the imaging diagnosis and what are the imaging findings?
- Q: Is it essential to have a scan of the brain in pituitary stalk interruption syndrome?
- Q: What is the ideal imaging modality for suspected abnormality of the pituitary and how it is planned?
- Q: What is the normal imaging appearance of pituitary gland in children?
- Q: What are the imaging findings of (a) empty sella, (b) pituitary microadenoma, and (c) pituitary macroadenoma?
- Q: What is the imaging diagnosis? What are the imaging features suggestive of this entity? What are the differential diagnoses?
- Q: What is the imaging diagnosis and imaging features suggestive of this entity?
- Q: What is the normal imaging appearance of pituitary stalk? What are the differential diagnoses of pituitary stalk thickening?
- Q: What are the imaging findings of central diabetes insipidus?
- IMAGING OF THE ADRENAL
- Q: What is the imaging diagnosis and possible differential diagnoses?
- Q: What is the ideal imaging modality in this condition and what are the imaging findings?
- Q: What is the ideal imaging modality for the adrenals in children?
- Q: What is the imaging appearance of normal neonatal adrenal gland and how does it differ from an adult adrenal?
- IMAGING OF PANCREAS
- Q: What is the imaging diagnosis?
- Q: What are the radiologic imaging modalities for the evaluation of pancreatic abnormalities? What is the imaging appearance of normal pancreas?
- IMAGING IN DISORDERS OF SEX DEVELOPMENT
- IMAGING IN PRECOCIOUS PUBERTY
- Q: What is the imaging diagnosis? What are the common imaging investigations performed in prepubertal vaginal bleeding?
- Q: What is the normal imaging appearance of uterus in children?
- Q: What is the normal appearance of ovaries in children?
- Q: What is the imaging diagnosis? What are the imaging studies performed in male precocious puberty?
- IMAGING OF THYROID AND PARATHYROID
- Q: What is the imaging diagnosis?
- Q: What is the ideal imaging modality for the evaluation of thyroid and parathyroid disease in children? What is the normal appearance of thyroid gland?
- BONE AGE ASSESSMENT
- BONE MINERAL DENSITY ASSESSMENT
- CONCLUSION
CHAPTER 24:Nuclear Imaging in Pediatric Endocrine Disorders
- INTRODUCTION
- THYROID DISORDERS
- 18F-FDG PET/CT
  - Parathyroid Disease
- ADRENOMEDULLARY TUMORS AND PANCREATIC NEUROENDOCRINE TUMOR
- 18F-FDOPA PET/CT
- 11C-5-HTP PET/CT
- F-18 FDG PET/CT
- ACKNOWLEDGMENT
APPENDICES:
APPENDIX 1:Growth Charts and Nomograms
APPENDIX 2:Protocols for Dynamic Endocrine Tests and Reference Values
- PROTOCOLS FOR SOME DYNAMIC ENDOCRINE TESTS
- REFERENCE RANGES FOR THE VARIOUS HORMONES
- CONVERSION FROM CONVENTIONAL TO SI UNIT FOR VARIOUS HORMONES

INDEX

ABCDEFGHIJKLMNOPRSTUVWXZ

Page numbers followed by f refer to figure and t refer to table.

21-hydroxylase deficiency 22

25-hydroxyvitamin D 187

3b-hydroxysteroid dehydrogenase 24

3-hydroxy-3-methylglutaryl-coenzyme 140

ABCC8 118, 125

Acanthosis nigricans 72, 113, 114, 116, 117

Achondroplasia 7

Acidotic breathing 178

Acne 46, 72

ACTH resistance 67

Acute pyogenic meningitis with hyponatremia 160

Acylcarnitine profile 227

Addison’s disease 107

Adrenal

adenomas 45

androgens 32

carcinoma 45

crisis 65

development disorders 67

hormone functions 150

insufficiency 65, 67t

causes of 66

steroid biosynthesis 58f

tuberculosis 68

tumor See Sex steroid hypersecretion

Adrenocortical carcinoma 72

Adrenocorticotropic hormone 60, 72, 86

deficiency 20, 218

secretion 78

Adrenoleukodystrophy 68

Adrenolytic drugs 74

Adrenomedullary

scintigraphy 268

tumors 268

Adrenostatic drugs 74

Adriamycin 218

a-fetoprotein 32

Alanine aminotransferase 133, 135

Albright hereditary osteodystrophy 145

Aldosterone secretion 66

Allgrove syndrome 67, 68

Alpha-1-adrenergic blockade 80

Alstrom syndrome 143

Androgen

excess, causes for 44

receptor defects 21

Androgen-insensitivity syndrome (AIS) 20

Angelman syndrome 233

Anti-insulin receptor antibodies 99

Anti-Müllerian hormone (AMH) 21

Anti-tuberculosis drugs 185

Aplasia 54

AR defects See Androgen receptor defects

AR gene 21

Argininosuccinic acid 227

Aspartate aminotransferase 133

Atrial natriuretic peptide (ANP) 160

Autoimmune

polyendocrine syndrome 178

polyendocrinopathy syndrome 1 67

Autosomal

dominant hypophosphatemic rickets 190

recessive syndrome 143

Auxology 113

b-adrenergic agonists 99

Bardet-Biedl syndrome 142

Bartter syndrome 195

Bayley-Pinneau nomogram 6

Beckwith-Wiedemann syndrome 91

Beclomethasone 14

b-human chrorionic gonadotropin 33

Bipolar disease 146

Bisphosphonates in hypercalcemia 200

Bleomycin 218

Blue diaper syndrome 195

Body iodine (123I/131I) scan 262

Bone

age 5

age assessment 257

health 205

mineral density, assessment of 257

mineralization 151

scan 269

Bony deformities 178

Botulinum toxin A 208

Boys stature-for-age and weight-for-age percentiles (birth to 36

months) 32f

Breast development in girls 31

Café au lait spots 30

Calciopenic rickets 182, 183

Calcitriol 181

Calcium 74, 175, 183, 190

deficiency 182

gluconate 172

homeostasis 169, 174

sensing receptor 175, 195

loss-of-function mutation 196

Carbohydrate to insulin ratio 101

Carboxyl ester lipase 118

Cardiac myxomas 73

Cardiorespiratory fitness 139

Cardiovascular disease 137

Cardiovascular/renal risk factors 104t

Catecholamine, complications of 78

Celiac disease 8, 104, 106, 130

Central diabetes insipidus 166, 218, 246

causes of 166

Cerebral

edema 110

salt wasting 163

Cerebrovascular accidents 78

Chest pain 78

Cheyne-stokes respiration 111

Children with type 1

diabetes, complications in 104t

Cholecalciferol 187

Chromosomal microarray analysis 231, 233

Chvostek sign 177

Clitoromegaly 44

Codon risk level in MEN2A 56t

Cohen syndrome 143

Congenital adrenal hyperplasia 22, 38, 57–64, 157

diagnosis of 60

to 21

hydroxylase enzyme deficiency 59

treatment of 63

Congenital hyperinsulinism 86, 90–92, 93t

diagnosis of 94

Corpus callosum 88

Corticotropin-releasing hormone 73

Cortisol 86

Cortisone 14

Cosyntropin 62

Cowden disease 55

Craniopharyngiomas 68, 71

Cryptorchidism 17

Cushing’s

disease 72, 73

syndrome 6, 42, 71–75, 78, 99

Cushingoid face 107

Cyclophosphamide 82, 218

Cyclosporin 99

Cytochrome p450 21OH enzyme deficiency 59

Cytomegalovirus 99

Dacarbazine 82

Dehydroepiandrosterone (DHEA) 24, 62

Dehydroepiandrosterone sulfate 148

Delta4-androstenedione (D4A) 20

Dend syndrome 123

Dental

abscesses 184

enamel hypoplasia 184

hypoplasia 177

Deoxycorticosterone (DOC) 20, 24, 62

Deoxycortisol 20

Desmolase 60

Desmolase deficiency 62

Desmopressin 89

nasal spray 69

Detemir 101

Dexamethasone 14, 43, 45, 73

Dexamethasone See Prednisone

Diabetes

education 105

insipidus 69, 166, 168

causes of 165

mellitus 11, 42, 72, 99, 166

type 1 98–112

mellitus, type 2 129

symptoms of 113

type of 219

Diabetic ketoacidosis 98, 100, 130

Diazoxide 40, 92, 99

Dietary

allowance 74

calcium intake 206f

DiGeorge syndrome 171, 172, 233

Dihydrotestosterone DHT 20

Dihydroxyphenylalanine (DOPA) 270

Dilantin 99

Disease-causing hemizygous mutation 21

Distal femoral bone mineral density 210f

DKA, severity of 108

Dopamine-secreting tumor 80

Double diabetes 148

Down’s syndrome 8, 100

Dumping syndrome 93

Dysgerminoma 25

Dysglycemia 151

Dyshormonogenesis with interpretation of nuclear imaging tests, level of defect in 260t

Dysmorphic features 113

Dyspnea 78

Ecchymosis, infection of 46

Ectopy See Aplasia

Edema 151

Empty sella 242

Endogenous hypercortisolism 73

Endomysial immunoglobulin a 12

Environmental endocrine disruptors 29

Epinephrine 77

Equivalent glucocorticoid activity of steroids 14t

Ergocalciferol 187, 206

Estradiol 35

Ethinyl estradiol 38

Euglycemia 89

Euvolemic hyponatremia 158

Exogenous glucocorticosteroids 14

Extracellular fluid (ECF) 157

Facial dysmorphism 142

Familial hypocalciuric hypercalcemia 195, 196

Fanconi syndrome 187, 191

Fasting plasma glucose 99

Fatty

acid oxidation disorder 228f

liver disease 136

pseudogynecomastia 152

Feminizing genitoplasty 64

Ferriman-Gallwey score 41f

Fibrous dysplasia 235

First-tier testing 233

Fluorescent in situ hybridization 232

Fluticasone 14

FMR1 mutation testing 233

Follicle stimulating hormone 19, 35, 217

Forbes disease 97

FOXP3 123

Friedreich ataxia 100

Galactose-1-phosphate uridyl transferase, activity of 20

Gallbladder disease 38

Gamma glutamyl transferase 133

Gardner syndrome 55

Genetic

counseling 235

forms of hyperinsulinism See Congenital hyperinsulinism

heterogeneity 235

pituitary hypoplasia 20

syndromes 31, 100

syndromic obesity 142

Geneticist’s approach to childhood obesity 144f

Genitourinary anomalies 17

Genu

valgum 184

varum 184

Germ cell tumors in DSD 25, 26

Germline versus somatic mutation 235

Gestational diabetes mellitus 100

Glargine 101

Glomerular filtration rate 188

Glucagon stimulation test 91

Glucocorticoids 4, 99, 209

deficiency 66

dose of 44

hormone 69

Glucokinase 93, 118

Glucorticosteroids 14

Glucose transporter 2 124

Glucose-6-phosphatase deficiency 97

Glutamate dehydrogenase 1 93

Glutamic acid decarboxylase 130

antibody 115

Glycemic

abnormalities 150

control 104t

Glycogen storage disease 97, 228f

Glycosylated hemoglobin 99, 103, 104, 149

GnRH analog stimulation 32

Gonadal dysgenesis 21

Gonadarche 31

Gonadotropin

deficiency 35

dependent 33

independent

adrenal-derived 33

gonad-derived 33

releasing hormone (GnRH) 28, 217

Granulomatous disease 197

Grave’s disease 49, 50, 51, 259

Growth hormone 215

deficiency 6, 9, 10, 71

treatment 216f

Grunting 111

Gullian-Barre syndrome 78

Gynecomastia 11

Hashimoto’s thyroiditis 49, 50, 52, 68, 147

Hematuria 184

Hemolytic uremic syndrome 78

Hepatic

and nonhepatic enzyme inducing antiepileptic drugs 212t

function panel 12

steatosis 149

Hepatocyte nuclear

factor 118

factor-1 118

factor-1-alpha (HNF-1A) 118

factors 4-alpha 93

Hepatosplenomegaly 184

Hereditary hypophosphatemic rickets with hypercalciuria 190

High and low radioactive iodine uptake, causes of 259t

High-density lipoprotein (HDL) 104, 148

Hirsutism 40, 46, 72

assessed, severity of 41

history of 40

infection of 46

HNF-1B 118

HNF-4A 118

Human chorionic gonadotropin-stimulation test 24

Huntington chorea 100

Hydrochlorothiazide 168

Hydrocorticone 14

Hydrocortisone 63

Hydroxyprogesterone 61

Hyperammonemia 225, 227f

Hyperandrogenism 41, 42

causes of 45

in girls 40–46

Hypercalcemia 194, 200

cause of 198

complications of 197

differential diagnosis of 199t

in children 194

causes of 195

Hyperfunctioning thyroid carcinoma 49

Hyperglycemia 106

symptoms of 99

Hyperglycemic crisis, symptoms of 99

Hypergonadotropic hypogonadism 19, 34, 37

Hyperinsulinemic hypoglycemia 93, 93t

causes of 92

Hyperinsulinism, causes of 93t

Hyperkalemia 57, 61, 65, 68, 110

Hypernatremia

causes for 165

correction of 167

in children, causes of 165t

Hypernatremic encephalopathy, symptoms of 167

Hyperparathyroid jaw tumor syndrome 196

Hyperparathyroidism 196

jaw tumor syndrome 195

Hyperphagia 146

Hyperpigmentation of areola 60

Hyperprolactinemia 37, 42, 214

Hypertension 72, 151, 184

in children, causes of 78t

Hypertensive crisis 78

Hyperthyroidism 99

etiology of 50f

Hypertrichosis 40

Hypertriglyceridemia 136, 151

Hypervitaminosis D 195

Hypervolemic hyponatremia 158

Hypocalcemia 169, 170, 177, 178

acute management of 178

beyond neonatal period, causes of 176

causes of 176

etiology of 178t

in infants, causes of 170

in neonatal period 169–173

in newborn 171

causes of 170

in older children 174

adolescents, causes of 176

management of 179

Hypocalcemic symptoms 184

Hypochondroplasia 7

Hypoglycemia 65, 87, 88, 225

in infants 83–97

in neonates 90

management of 91

Hypogonadism 146

Hypogonadotropic hypogonadism 19, 35, 37, 89, 143, 218

Hypokalemia 72

Hypoketotic hypoglycemia 226

Hypomagnesemia 179

Hyponatremia 61, 65, 68, 158, 160

causes of 158, 160

management of 162

Hypoparathyroidism 176, 178

Hypophosphatasia 186, 197

Hypophosphatemic rickets 189, 192

Hypopituitarism 87, 88

Hypospadias 17

Hypotension 66

Hypothalamic-pituitary axis 74

Hypothermia 54

Hypothyroidism 6

Hypotonia 146

Hypoventilation syndrome 93

Hypovitaminosis D 151

Hypovolemia stimulates renin 160

Hypovolemic

hyponatremia 158

shock 65

Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome 123

Impaired growth velocity 5f

Inborn errors of metabolism 57, 227, 228f

Inflammatory bowel disease 7

Inherited

errors of metabolism, classification of 224

metabolic disorder 223

Injection-site lipodystrophy 98

Insulin 86

degludec 101

detemir 101

glargine 101

growth factor-1 (IGF-1) 35

in utero 90

induced hypoglycemia 10

like growth factor binding protein-3 (IGFBP3) 9

like growth factor-1 8

promoter factor 118

resistance syndrome 93

sensitive tissues 92

sensitivity factor 101

therapy 110

International Germ Cell Cancer Collaborative Group (IGCCCG) 26

Intracranial

hypertension 11

lesions 31

Intrauterine growth retardation 8, 93

Investigations in child with rickets 186

Iodine 51

Ionized calcium 175

IPF1 118

Isoniazid See Anti-tuberculosis drugs

Jansen’s metaphyseal dysplasia 197, 198

Jaundice 178, 184

Juvenile granulosa cell tumor (JGCT) 252

Kallmann syndrome 35, 36

Karyotype 231

KCNJ11 123

Ketoconazole See Adrenostatic drugs

Ketogenesis, disorders of 97

KLF11 118

Klinefelter’s syndrome 100

Kruppel-like factor 118

Labioscrotal fusion 61f

Lactate dehydrogenase 25

Lactic acidosis 96

Langerhan’s cell histiocytosis 246

Laurence-Moon-Biedl syndrome 100

Leuprolide agonist, dose of 33

Levothyroxine by age and weight 53t

Leydig cell tumor 254

Lipoatrophic diabetes 99

Lipoid congenital adrenal hyperplasia 67

Lisinopril 150

Lisinopril tapered 152

Low-density lipoprotein 104

Lowe’s syndrome 191

Lower limb deformity more than upper limbs 184

Luteinizing hormone 35, 69, 217

Luteinizing hormone, levels of 19

Macroglossia 54

Malabsorption 7

Male precocious puberty 254

Malignant pheochromocytoma 82

Maturity onset diabetes of young 117, 118

Mauriac syndrome 107, 108

McCune-Albright’s syndrome 31, 49, 72, 183, 195, 235

Medullary thyroid carcinoma 56

Medulloblastoma in cerebellum 216

Megadoses of vitamin D 189

Metabolic

acidosis 65, 225

bone disease 7, 181

conditions associated with hyperinsulinemic hypoglycemia 93t

syndrome 136

in adolescents 135

in children 135, 136

Metaiodobenzylguanidine 268

Metanephrines 79

Metformin 42, 139

Methimazole 51

Methylation PCR 233

Methylmalonic acidemia 224

Methylphenidate 4

Methylprednisolone 14

Metoprolol 81

Metyrapone 74

Metyrosine 81

Microdeletion syndrome 146

Micropenis in neonate 85f

Mimickers of rickets 186

Mineralocorticoid

deficiency 66

hormone 69

Minoxidil 40

Mitotane See Adrenolytic drugs

Monogenic diabetes 113, 116

causes of 125

Monosomy 1p36 143

Mother’s menarche 208

Moyamoya disease 78

Müllerian ducts 21

Multi-organ failure 78

Multiple endocrine neoplasia 79, 195

type 1 93

Multiple pituitary hormonal deficiencies 86, 87

Muscle creatine phosphokinase (CPK) 148

Mutations leading to maturity-onset diabetes of young phenotype 118t

Myocarditis 78

Myotonic dystrophy 100

National Glycohemoglobin Standardization Program 99

Natriuretic peptide system 160

Neisseria meningitidis 67

Nelson syndrome 74

Neonatal

diabetes 99, 113, 121, 122

hypoparathyroidism 172

hypotonia 146

jaundice 88

severe hyperparathyroidism 195

Nephrogenic

diabetes insipidus 8, 166

syndrome 158

Nephrotic syndrome 98, 106, 107, 158

Neuroblastomas 248

NEUROD1 118

Neuroendocrine tumors 77

Neurofibromatosis 31

Neuron pulses 28

Neutral protamine hagedorn 100, 101

Nicotinic acid 99

Nocturia 113, 114

Nonalcoholic fatty liver disease 133, 136

Nonendocrine tumors 73

Non-nutritional cause of rickets 187

Nonoperable tumors 82

Nonseminomatous germ cell tumors (NSGCT) 26

Norepinephrine 77

Normal pancreatic tissue 95f, 96f

Normal renal function tests 57

Normetanephrines 79

NPH insulin 101

Nuclear Imaging in Pediatric Endocrine Disorders 259–271

Obesity 146, 151

Oligomenorrhea 42

Oligo-ovulation 42

Optic

atrophy and deafness 166

nerve hypoplasia 88

Oral glucose tolerance test (OGTT) 99, 220

Organic academia 227

Ornithine

transca 227

transcarbamylase (OTC) deficiency 224

Osmotic regulation system 159

Osteolytic hypercalcemia 196

Ovaries in children 254

Oxcarbazepine 116

P450 oxidoreductase (POR) deficiency 23

Paired box gene 118

Pancreatic

neuroendocrine tumor 250

b-cells 92

Pancreatitis 78, 99

Papilledema 11

Paralytic ileus 78

Paramethasone 14

Parathormone 176

Parathyroid 255

adenomas 256

disease 267

gland 176

hormone 56, 175, 205

related protein (PTHRP) 78

hyperplasia 55, 56

Parenteral nutrition 188

Pathologic causes 6

Pediatric

endocrine disorders 241

metabolic syndrome 138, 139

Pentamidine 99

Peptide receptor radionuclide therapy (PRRT) 270

Peripheral

neuropathy 98

precocity 32

vascular disease 107

Peroxisomal disorders 67

Pharmacodynamic profiles of various insulins 101t

Phenobarbitone 185

Phenotypic heterogeneity 235

Phenoxybenzamine 80

Phenytoin See Anticonvulsant drugs

Pheochromocytoma 55, 56, 77, 79, 99, 198

in children and adolescents 76–82

surgery for 81

Phosphate deficiency 183

Phosphatonin 189

Phosphaturia 189

Phosphopenic (hypophosphatemic) rickets 183, 188, 189

Pituitary

aplasia 10

gland in children 242

hormone

corticotrophin 66

deficiencies 88

hypoplasia 10

macroadenoma 242

microadenoma 242

stalk interruption syndrome (PSIS) 241

Plasma

adrenocorticotropic hormone 65

aldosterone concentration (PAC) 62

amino acid 227

glucagon 130

renin activity 62, 68

Polycystic

ovarian disease 59

ovary syndrome 38, 42, 72

Polydactyly 142

in Bardet-Biedl syndrome 145f

Polydipsia 113, 114, 178

Polyuria 113, 114, 178, 184

Porphyria 100

Positive apocrine odor 150

Positive axillary hair 150

Postaxial polydactyly 143

Postmeal hypoglycemia 131

Post-transplant diabetes mellitus 220

management of 221f

Potassium channel

genes 123

inwardly rectifying channel 93

Potential side effects of methimazole 51

Prader Willi syndrome 8, 100, 142, 143, 143f, 146–148, 234

diagnosis of 146

in older child 145f

Precocious puberty 31, 35, 252

causes of 33t

Prediabetes 130

Prednisone 14, 69, 218

Premature adrenarche 44

Preproinsulin gene 118, 123

Presurgery medical management 80

Primary adrenal insufficiency 20, 67

Primary amenorrhea 36

causes of 37

Primary carnitine deficiency 97

Primary testicular failure 34

Procarbazine 218

Prolactinoma 198

Prolonged jaundice 54

Prophylactic thyroidectomy 56

Propionic acidemia 224

Propranolol 81

Proteinuria 184

Proximal muscle wasting 107

Pseudogynecomastia bilaterally 147

Pseudohyponatremia 159

Pseudohypoparathyroidism 71, 178

Pubertal development, history of 34, 36

Pubic

and axillary hair 36

hair 150

development 4

PWS facies 147

Pyruvate dehydrogenase 228f

Rabson-Mendenhall syndrome 99

Rachitic rosary 184

Rathke’ cleft cyst 245

Refractory rickets, causes of 188

Refsum’s disease 67

Regular insulin 101

Renal

disease 8, 209

losses 158

symptoms 184

tubular acidosis 8, 163, 178, 190, 228f

Renin-angiotensin-aldosterone system (RAAS) 157

RET mutation 55

Rickets 7, 181, 183

causes of 182, 189

etiology of 183

in hypophosphatasia 198

Rifampicin 185

Russell-Silver syndrome 8

diagnosis of 17

test for 17

Sarcoidosis 246

Scoliosis 11

Secondary adrenal insufficiency 67

Secondary carnitine deficiency 97

Second-tier testing 233

Self-monitoring of blood glucose 102

Septo-optic dysplasia 10, 88

Septum pellucidum 88

Serum 61

17hydroxyprogesterone 61, 64

alkaline phosphatase 133

calcium level 175

cortisol 65, 74

creatinine 12

electrolytes 76, 108

follicle-stimulating hormone 41

insulin 74

level of phosphorus 192

luteinizing hormone 41

levels 74

sodium 158

Sex

assignment 25

development, disorders of 19–27, 38, 43, 251

steroid

hypersecretion 33

production by gonad 31

Short stature 3

causes of 6

pathologic causes of 7

SIADH, diagnostic criteria for 161

Single gene analysis 234

maturity assessment 5

Skeletal

dysplasia 7

survey for 7

Skin thinness, infection of 46

Slipped capital femoral epiphyses 11

Smith-Lemli-Opitz syndrome 67, 68

Somatomedin C 8

Somatostatin receptor scintigraphy 269

Somatostatinoma 99

Somatotropinoma 198

Steroid metabolites 62

Steroidogenesis disorders 67

Steroidogenic

acute regulatory protein, deficiencies in 24

defects 21, 23

Stiff-man syndrome 99

Striae, infection of 46

Strict glycemic control 221

Subcutaneous

fat necrosis 197

insulin infusion 100, 102

Succinate dehydrogenase D, B, and C 79

Sulfonylurea receptor 1 124

Sulfonylureas 120

Superior mesenteric artery and vein 95

Synacthen 69

stimulation test 87

test 86

Syndactyly 142

Syndrome of inappropriate antidiuretic hormone secretion (SIADH) 163

and cerebral salt wasting, comparison of 162t

Syndromic associations of hyperinsulinemic hypoglycemia 93t

Tachypnea 111

Tacrolimus 99

Tanner staging 28

Target blood glucose range t 103

Tea tree oil 29

Tertiary hyperparathyroidism 196

Testicular

and penile enlargement 4

enlargement in boys 31

volumes 31

Testosterone 203

Thiazide diuretics 168

Thiazides 99

Thyroid 255

antibodies 50

blockade 269t

carcinoma 55

disease 49–56, 104

disorders 259

follicular cell 49

function 10

tests 76, 148

gland, diffusely increased of 261

hormone 9, 99

peroxidase 50, 52

scintigraphy 260

stimulating hormone 50, 52, 87

stimulating immunoglobulin 50

Thyroxine 8, 35

levels 87

Toxic adenoma 49

Transient

hyperammonemia of the newborn 227

NND 122

Trans-sphenoidal surgery 74

Triamcinolone 14

Triglycerides 135

Triiodothyronine 50

Truncal obesity 143

Tumor markers 32

Tumor-induced osteomalacia 191

Turner’s syndrome 8, 100

treatment for 38

Type 2 diabetes, diagnosis of 130

Tyrosine kinase 115

Umbilical hernia 54

Uncoupling protein 2 93

Undervirilized males 64

Urea cycle defect 227

Urinalysis 12

Urinary

analysis for glycosuria 187

free cortisol 73

glucose 103

Urine 113

analysis 76

ketones 108

metanephrines 79

organic acids 226, 227

Vanwyk-Grumbach syndrome 9, 52

Vasopressin 159

receptor antagonist 164

Vertebral bodies, abnormalities of 7

Vinblastine 218

Vincristine 82, 218

Vitamin

D 205, 211

deficiency 173, 180, 183, 184, 187, 211

deficiency rickets 186, 187

stages of 185

dependent rickets 176

disorders of 177

hormone 174

metabolism in body 182

metabolism of 181

supplementation 74

D2 187, 206

D3 181

D3 187

D-dependent rickets 184, 187, 190

von Gierke disease 97

von-Hippel-Lindau syndrome 79

Warfarin 209

Water homeostasis 159

Waterhouse-Friderichsen syndrome 67

Wheelchair-bound children 211

William-Beuren syndrome 195, 197, 200

Williams syndrome 233

Wilson disease 176

Wolfram syndrome 100, 165

Wolman disease 67, 68

X-linked hypophosphatemic rickets 184, 190

Zellweger syndrome 67

Zinc acexamate 122

TOC
Index

Chapter Notes