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Complete androgen insensitivity syndrome — SCE Endocrinology MCQ

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ModerateReproductive endocrinologyComplete androgen insensitivity syndromeSCE Endocrinology

A 22-year-old phenotypic woman presents with primary amenorrhoea. Breast development is normal, pubic hair is sparse and there is a blind-ending vagina. Karyotype is 46,XY and testosterone is in the adult male range. What is the most likely diagnosis?

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Correct answer: E — Complete androgen insensitivity syndrome

Complete androgen insensitivity syndrome is best because 46,XY karyotype, absent uterus, normal breasts and sparse pubic hair indicate complete androgen insensitivity. The alternatives are less appropriate because MRKH is 46,XX with normal pubic hair; 5-alpha-reductase deficiency causes undervirilisation with different puberty; Swyer has poor breast development; CAH virilises 46,XX infants. The SCE teaching point is to integrate the clinical pattern, biochemistry and context rather than treating an isolated result.

Reference: Endocrine Society DSD guidance