Pediatric Endocrinology
This domain tests thyroid disease, disorders of growth and puberty, adrenal insufficiency and diabetic ketoacidosis.
Thyroid
- Congenital hypothyroidism is detected on newborn screening (raised TSH); start levothyroxine 10-15 mcg/kg/day within 2 weeks of life to protect neurodevelopment.
- Acquired hypothyroidism from Hashimoto thyroiditis causes growth failure, bradycardia and constipation with raised TSH and anti-thyroid peroxidase antibodies.
Growth and puberty
- Growth hormone deficiency gives severe short stature with low growth velocity and delayed bone age; diagnose with stimulation testing and treat with recombinant hormone.
- Constitutional delay shows delayed bone age matching delayed height age.
- Precocious puberty: breast development before 8 years in girls or testicular enlargement before 9 years in boys; central causes respond to GnRH agonists.
- Turner syndrome (45,X): short stature, webbed neck, coarctation, ovarian failure; treat with growth hormone.
Adrenal disorders
- 21-hydroxylase deficiency causes 90% of congenital adrenal hyperplasia; salt-wasting forms show hyponatraemia, hyperkalaemia and ambiguous genitalia in females. Treat with hydrocortisone, fludrocortisone and sodium chloride.
Diabetic ketoacidosis
- pH below 7.3, bicarbonate below 18 mmol/L, ketonaemia and dehydration.
- Give 10-20 mL/kg isotonic saline, then a 0.05-0.1 unit/kg/hour insulin infusion started after potassium is known; add potassium once it falls below 5.5 mmol/L.
- Bicarbonate only for pH below 6.9. Cerebral oedema is the feared complication; treat with hypertonic saline or mannitol.
Worked example
A 9-year-old presents with polyuria, glucose 500 mg/dL, pH 7.15, bicarbonate 8 mmol/L and ketonuria. Reasoning: this is DKA. Give isotonic fluid, confirm potassium, then start an insulin infusion at 0.05-0.1 unit/kg/hour and monitor neurological status hourly.
Traps
Giving an insulin bolus in paediatric DKA; giving bicarbonate routinely; and missing salt-wasting adrenal crisis in a neonate with hyperkalaemia.