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Congenital adrenal hyperplasia — SCE Endocrinology MCQ

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HardAdrenalCongenital adrenal hyperplasiaSCE Endocrinology

A 24-year-old woman has hirsutism, primary amenorrhoea and hypertension. Potassium is 3.0 mmol/L. Cortisol is low, ACTH is high and 11-deoxycortisol is markedly raised. What is the most likely enzyme defect?

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Correct answer: C — 11-beta-hydroxylase deficiency

11-beta-hydroxylase deficiency causes androgen excess plus hypertension from deoxycorticosterone accumulation. Classic 21-hydroxylase deficiency causes salt wasting rather than hypertension. 17-alpha-hydroxylase deficiency causes hypertension with sexual infantilism and low androgens.

Reference: Endocrine Society CAH Guideline