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Complete androgen insensitivity syndrome — SCE Endocrinology MCQ

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HardReproductive EndocrinologyComplete androgen insensitivity syndromeSCE Endocrinology

A 19-year-old woman has primary amenorrhoea. Breast development is Tanner stage 5, pubic hair is sparse and blind-ending vagina is found on examination. Karyotype is 46,XY and testosterone is in the adult male range. What is the underlying pathophysiology?

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Correct answer: B — Androgen receptor resistance causing impaired androgen action

Complete androgen insensitivity is due to androgen receptor dysfunction in a 46,XY individual, with testes producing testosterone and anti-Müllerian hormone. Müllerian agenesis has a 46,XX karyotype with normal pubic hair. The pearl is that breast development reflects aromatisation of testosterone to oestrogen.

Reference: Society for Endocrinology DSD guidance