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Congenital adrenal hyperplasia — RACP Paediatrics MCQ

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HardEndocrinology and growthCongenital adrenal hyperplasiaRACP Paediatrics

A 12-day-old infant with atypical genitalia presents with vomiting, poor feeding and weight loss. Sodium is 124 mmol/L, potassium is 6.8 mmol/L and glucose is 2.1 mmol/L. What is the most appropriate management?

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Correct answer: AHydrocortisone with saline, glucose and urgent endocrine consultation

Salt-wasting congenital adrenal hyperplasia causes adrenal crisis with hyponatraemia, hyperkalaemia and hypoglycaemia; urgent hydrocortisone, isotonic fluids and glucose are required. Karyotype helps later but treatment must not wait. The pearl is that atypical genitalia plus shock or electrolyte disturbance is CAH until proven otherwise.

Reference: RCH Clinical Practice Guidelines: Adrenal crisis; Therapeutic Guidelines (eTG); AMH Children's Dosing Companion