Adrenal Hypoplasia Congenita — RACP Paediatrics MCQ

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HardEndocrinologyAdrenal Hypoplasia CongenitaRACP Paediatrics

Neonate: low cortisol + low aldosterone, elevated ACTH/renin, normal 17-OHP. Diagnosis?

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Correct answer: A — Primary adrenal insufficiency (adrenal hypoplasia congenita)

Normal 17-OHP excludes 21-OHD. Low cortisol + low aldo + elevated ACTH = primary AI (likely DAX1/NR0B1).

Reference: RCH Melbourne – 2024