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Congenital adrenal hyperplasia — DCH MCQ

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HardNeonatologyCongenital adrenal hyperplasiaDCH

A term newborn has bilateral undescended testes on the baby check. He has poor feeding, vomiting and mild hyperpigmentation; sodium is 126 mmol/L and potassium is 6.4 mmol/L. What is the most likely diagnosis?

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Correct answer: C — Congenital adrenal hyperplasia

Poor feeding, vomiting, hyperpigmentation, hyponatraemia and hyperkalaemia with genital findings suggest salt-wasting congenital adrenal hyperplasia. Simple undescended testes would not explain electrolyte disturbance or systemic illness. The pearl is that ambiguous or atypical genital findings plus shock or electrolyte derangement should prompt urgent endocrine assessment.

Reference: BNFc; RCPCH; NICE CKS Neonatal disorders