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Müllerian agenesis — SCE Endocrinology MCQ

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ModerateReproductive EndocrinologyMüllerian agenesisSCE Endocrinology

A 17-year-old girl has primary amenorrhoea, normal breast development and cyclical pelvic pain. Examination shows a shortened vagina and ultrasound shows absent uterus with normal ovaries. Karyotype is 46,XX and testosterone is normal female range. What is the most likely diagnosis?

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Correct answer: D — Mayer-Rokitansky-Küster-Hauser syndrome

Absent uterus with normal ovaries, normal female testosterone and 46,XX karyotype is Müllerian agenesis. Complete androgen insensitivity is 46,XY with sparse pubic hair and male-range testosterone. The pearl is that normal breast development in primary amenorrhoea does not exclude structural reproductive tract disorders.

Reference: RCOG and Society for Endocrinology DSD guidance