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Complete androgen insensitivity syndrome — MCCQE Part 1 MCQ

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HardAmenorrhoeaComplete androgen insensitivity syndromeMCCQE Part 1

A 16-year-old girl with primary amenorrhoea has Tanner IV breasts but no pubic/axillary hair. Blind-ending vaginal pouch. Karyotype: 46,XY. Most likely diagnosis?

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Correct answer: C — Complete androgen insensitivity syndrome

Primary amenorrhoea + breast development + absent androgen-dependent hair + 46,XY = CAIS. Non-functional androgen receptor. Gonadectomy after puberty due to malignancy risk. MRKH has 46,XX.

Reference: SOGC / Endocrinology DSD Guidelines