CAH — RACP Paediatrics MCQ

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ModerateEndocrinologyCAHRACP Paediatrics

A term neonate has ambiguous genitalia. Karyotype 46,XX. 17-OHP markedly elevated. Most common diagnosis?

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Correct answer: C — 21-hydroxylase deficiency (CAH)

46,XX DSD with elevated 17-OHP = 21-hydroxylase deficiency, the most common CAH (>90%).

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: DSD