Practical Pediatric Endocrinology PSN Menon, Anurag Bajpai, Jyoti Sharma
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SECTION 1
1Growth and pituitary
  • Short stature
  • Tall stature
  • Growth hormone deficiency
  • Panhypopitutarism
  • Diabetes insipidus
2

Short stature1

 
CAUSES
 
 
Familial
 
Constitutional delay
 
Malnutrition
 
Intrauterine growth retardation
 
Systemic disease
  • Renal Chronic renal failure (CRF), Renal tubular acidosis (RTA)
  • Cardiac Congenital heart disease, Rheumatic heart disease
  • Hepatic Chronic liver disease (CLD)
  • GIT Malabsorption
  • Respiratory Bronchial asthma, Bronchiectasis, Cystic fibrosis
  • Chronic infections Tuberculosis.
 
Chromosomal/Genetic syndromes
  • Turner syndrome
  • Down syndrome
  • Seckel syndrome
  • Silver Russell disease
 
Endocrine causes
  • Growth hormone deficiency (GHD)
  • Hypothyroidism
  • Pseudohypoparathyroidism (PHP)
  • Diabetes mellitus
  • Skeletal dysplasia/Rickets4
 
Diagnostic criteria
  • Height < 3rd percentile
  • Growth velocity
    • < 7 cm/year—1–4 years
    • < 6 cm/year—4–6 years
    • < 4.5 cm/year— > 6 years
 
EVALUATION
Urgent evaluation if height < 3 SD of normal.
 
 
History
  • Perinatal History- History suggestive of intrauterine infection/intrauterine growth retardation
  • History suggestive of tuberculosis/ chronic Infections
  • Features of cystic fibrosis/ celiac disease/ liver disease/ renal failure/ cardiac disease
  • Features of hypothyroidism/ precocious puberty
  • Nutritional assessment
  • Features of central nervous system involvement
  • Family history of delayed puberty/ short stature
 
Examination
  • Anthropometery
    • Weight
    • Weight for height
    • Head circumference
  • Upper segment to lower segment ratio
    • 1.7 at birth
    • Decrease by 0.07/ year
    • Becomes 1 at the age of 10 years
      Advanced
    • Morquio syndrome
    • Spondyloepiphyseal dysplasia
      Infantile
    • Hypothyroidism
    • Achondroplasia
    • Turner syndrome
    • Rickets
    • Mucopolysaccharidoses
      Normal Growth hormone deficiency.5
  • Arm span
  • Less than height till the age of 11 years in boys and 14 years in girls
  • Later
    • Boys 5.3 cm greater than height
    • Girls 1.2 cm greater than height
    • Arm span more than height-
      • Disease of vertebrae
      • Scoliosis.
    • Arm span less than height-
      • Achondroplasia
      • Hypochondroplasia
      • Turner syndrome
  • Target height
    • Mid parental height (MPH)
      zoom view
    • Target height for boys = MPH + 6.5 cm
    • Target height for girls = MPH − 6.5 cm
    • Plot target height in the growth chart and extrapolate for age
    • Investigate if current height is lower than 2 SD for target height
  • Features of growth hormone deficiency
    • Truncal obesity
    • Fine facial features
    • Micropenis
    • Hypoglycemia
    • Normal growth till 1 year of age
  • Features of Hypothyroidism / Turner syndrome / rickets
  • Metacarpal shortening: Turner syndrome / PHP
  • Dysmorphism
  • Skeletal deformities
  • Sexual maturity rating (Tanners staging)
 
Investigations
 
Level I
  • Hemogram with ESR (Chronic infection)
  • Bilirubin/ AST/ ALT/ urea/ creatinine/ albumin (CRF, CLD)6
  • Serum calcium/ phosphate/ alkaline phosphatase (Rickets, PHP)
  • Blood sugar-fasting and post prandial (DM)
  • Blood gas (RTA)
  • Stool and urine routine and microscopy (malabsorption, UTI)
  • Bone age
    • Significant delay - GHD/ hypothyroidism/ celiac disease
    • Mild delay- Constitutional delay
    • Appropriate- Familial/ Down syndrome / Turner syndrome
  • Malabsorption studies- D xylose/fecal fat
 
Level II
  • Decreased bone age
    • T3/T4/TSH
    • GH Stimulation Test
  • Features of Turner syndrome
    • FSH/ LH
    • Ultrasound pelvis for ovaries/ endometrium
    • Karyotyping
  • Girls with height less than 3rd percentile ultrasound pelvis for steak ovaries
  • Features of celiac disease/ no other cause—Celiac serology (even if malabsorption studies are normal)
 
MANAGEMENT
 
Nutritional Therapy
  • Dietary advice
  • Hematinics
  • Zinc supplementation
 
Constitutional Delay
  • Bone age > 12 year
  • Testosterone enanthate 50 mg once/month im for 4–6 months
 
Growth Hormone Therapy (Please refer to chapter 3)
  • Growth hormone deficiency
  • Turner syndrome
  • Chronic renal failure7
  • Experimental
    • Hypophosphatemic rickets
    • Skeletal dysplasia
    • Intrauterine growth retardation
    • Idiopathic short stature
Further reading
  1. Cowell CT. Short stature. In: Brook CGD Ed. Clinical Pediatric Endocrinology 3rd Edn. Blackwell Science  London  1995. Pp 136–172.
  1. Lifshitz F, Cervantes CD. Short stature. In: Lifshitz F Ed. Pediatric Endocrinology. 3rd edn. Marcel Dekker, Inc,  New York,  1996. Pp 1–18
  1. Rosenfield RL. Essentials of growth diagnosis. Endocrin clin north am, 1996; 25: 743–758.