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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 has vomiting, weight loss and shock. Blood tests show sodium 121 mmol/L, potassium 7.0 mmol/L and glucose 2.1 mmol/L. The genitalia are atypical and newborn screening is pending. What is the most appropriate management?

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Correct answer: ATreat adrenal crisis with hydrocortisone, isotonic saline and dextrose

This is salt-wasting congenital adrenal hyperplasia presenting as adrenal crisis. Immediate hydrocortisone, isotonic saline and dextrose are lifesaving and should not wait for confirmatory genetics. Hyperkalaemia and hypoglycaemia make the presentation an emergency rather than a routine endocrine referral.

Reference: RCH Adrenal crisis guideline; AMH Children's Dosing Companion