Disorders of Sex Development — RACP Paediatrics MCQ

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HardNeonatologyDisorders of Sex DevelopmentRACP Paediatrics

A term male neonate is noted to have bilateral undescended testes with hypospadias and no palpable gonads. What is the most important initial investigation?

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Correct answer: B — Karyotype and urgent electrolytes

Bilateral non-palpable testes with hypospadias in a neonate constitutes a disorder of sex development (DSD). The most urgent investigation is a karyotype (to determine chromosomal sex) and serum electrolytes (to exclude salt-wasting congenital adrenal hyperplasia, which can present with adrenal crisis in the first 1–3 weeks). 17-hydroxyprogesterone should also be measured urgently.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Disorders of Sex Development