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Non-classic congenital adrenal hyperplasia — SCE Endocrinology MCQ

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HardReproductive EndocrinologyNon-classic congenital adrenal hyperplasiaSCE Endocrinology

A 30-year-old woman has hirsutism and irregular periods. 09:00 follicular-phase 17-hydroxyprogesterone is 14 nmol/L and rises markedly after ACTH stimulation. What is the most likely diagnosis?

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Correct answer: E — Non-classic 21-hydroxylase deficiency

Elevated basal and ACTH-stimulated 17-hydroxyprogesterone supports non-classic 21-hydroxylase deficiency. PCOS is more common but should not be assumed when 17-OHP is abnormal. Treatment depends on symptoms and fertility goals.

Reference: Endocrine Society CAH Guideline