Mayer-Rokitansky-Küster-Hauser syndrome with a solitary duplex kidney and anal stenosis: a rare case report.
2020
Abstract Background To date, only 23 cases of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome with duplex kidney have been reported. We present the first reported case of MRKH syndrome with solitary duplex kidney and anal stenosis. Case A 17-year-old Chinese girl presented with primary amenorrhea and fully developed secondary sexual characteristics. Ultrasonography of the abdomen and pelvis revealed the absence of the right kidney, a left duplex kidney, and a primordial uterus. Surgery for anal stenosis was performed when she was 1 year old. The patient had a normal 46, XX Karyotype. Summary and Conclusions This MRKH syndrome patient uniquely presented with congenital renal and anal malformations with no other identified congenital syndrome. Female infants with anorectal malformations should be assessed for potential Mullerian and renal structure abnormalities.
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