Congenital Adrenal Hyperplasia — RACP Paediatrics MCQ

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ModerateEndocrinologyCongenital Adrenal HyperplasiaRACP Paediatrics

Newborn has positive NBS for CAH (elevated 17-OHP). Infant appears well. Next step?

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Correct answer: B — Urgent serum 17-OHP, electrolytes, cortisol, and clinical assessment

Positive NBS for CAH requires urgent confirmatory testing and clinical assessment for virilisation/salt wasting.

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