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17-alpha-hydroxylase deficiency — SCE Endocrinology MCQ

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HardAdrenal17-alpha-hydroxylase deficiencySCE Endocrinology

A 19-year-old woman has primary amenorrhoea, hypertension and hypokalaemia. She has absent pubertal development, low cortisol and low androgens, with high ACTH and high corticosterone. What is the most likely diagnosis?

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Correct answer: D — 17-alpha-hydroxylase deficiency

17-alpha-hydroxylase deficiency causes impaired sex steroid and cortisol synthesis with mineralocorticoid excess, causing hypertension and hypokalaemia. 21-hydroxylase deficiency causes androgen excess and salt wasting. Complete androgen insensitivity does not cause cortisol deficiency or hypokalaemic hypertension.

Reference: Endocrine Society CAH Guideline