ArticleThe Pan African medical journal2025
[Primary infertility revealing a Rokitansky syndrome: a case report].
Article in The Pan African medical journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital malformation characterised by uterine agenesis and absence of the upper two-thirds of the vagina in phenotypically normal females with a 46,XX karyotype. We report the case of a 22-year-old woman presenting with primary infertility. Clinical examination revealed normal external genitalia with a shallow vaginal dimple. Pelvic ultrasound and MRI showed complete agenesis of the uterus and upper vagina, with normal ovaries. Hormonal evaluation confirmed preserved ovarian function, and karyotyping revealed a normal 46,XX profile. Diagnostic laparoscopy confirmed the diagnosis of type I MRKH syndrome. This case highlights the importance of considering this diagnosis in any woman with primary amenorrhea, even when revealed late in the context of infertility.
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