MAYER-ROKITANSKY-KÜSTER-HAUSER SYNDROME WITH PELVIC RENAL ECTOPIA: AN MRI-BASED DIAGNOSIS OF A RARE CONGENITAL ASSOCIATION

Authors

Zakaria Toufga, Amine Cherraqi, Ouijdane Zamani, Issam En-nafaa, Rachida Saouab, Hassan En-nouali.

Journal Information

Journal: Medpeer Publisher

ISSN: 3066-2737

Volume: 3

Issue: 6

Date of Publication: 2026/06/26

DOI: 10.70780/medpeer.000QGTU

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder characterized by aplasia of the uterus and vagina in phenotypically female individuals with a normal 46,XX karyotype and functional ovaries. We present the case of a young woman referred for primary amenorrhea in whom pelvic MRI demonstrated complete absence of the uterus and vagina, bilaterally present but hypoplastic ovaries, and an incidental finding of right pelvic renal ectopia — a well-recognized, though underappreciated, urological association of MRKH syndrome. This case highlights the critical role of MRI in the comprehensive diagnostic workup of müllerian aplasia, allowing simultaneous delineation of reproductive tract anomalies and detection of associated urinary tract malformations. MRI-based characterization guided multidisciplinary counseling encompassing psychological support, surgical options for vaginal reconstruction, and genetic evaluation. This report underscores the importance of systematic screening for concomitant urological anomalies in patients diagnosed with MRKH syndrome.

Keywords

MRKH syndrome, Müllerian aplasia, Pelvic renal ectopia, Primary amenorrhea, Pelvic MRI