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Mayer-Rokitansky-Kuster-Hauser syndrome — SCE Endocrinology MCQ

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ModerateReproductive EndocrinologyMayer-Rokitansky-Kuster-Hauser syndromeSCE Endocrinology

A 26-year-old woman has primary amenorrhoea, normal breast development and cyclic pelvic pain. Ultrasound shows absent upper vagina and uterus; karyotype is 46,XX and testosterone is normal female range. What is the most likely diagnosis?

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Correct answer: E — Mayer-Rokitansky-Kuster-Hauser syndrome

Absent uterus and upper vagina in a 46,XX woman with normal ovarian function suggests MRKH syndrome. Complete androgen insensitivity is 46,XY with male-range testosterone. Associated renal and skeletal anomalies should be assessed.

Reference: Society for Endocrinology DSD Guidance