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Case Reports
. 2024 Aug 23;16(8):e67606.
doi: 10.7759/cureus.67606. eCollection 2024 Aug.

Mayer-Rokitansky-Küster-Hauser Syndrome: A Case Report

Aarthi Muthu Kumar  1 , Pramila Menon  1 , Shailaja Mane  1
Affiliations
Case Reports

Mayer-Rokitansky-Küster-Hauser Syndrome: A Case Report

Aarthi Muthu Kumar et al. Cureus. .

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is described in females with a 46, XX karyotype and normal development of secondary sexual characteristics. The primary sexual characteristics are depicted by the congenital aplasia of the uterus and the upper two-thirds of the vagina. Based on the extent of malformations and association of extra-genital anomalies, it is categorized into type I and type II MRKH. The associated malformations seen include skeletal anomalies, renal anomalies, hearing defects, and, rarely, digital and cardiac anomalies. Herewith, we report a case of a two-year-old patient with urogenital anomalies on the left side diagnosed by imaging studies, which were suggestive of MRKH type II. For any child with urogenital anomalies with associated renal, skeletal, and hearing defects, we must suspect MRKH syndrome. The early detection of such anomalies will help in genetic counseling, management of fertility outcomes, and appropriate surgical management.

Keywords: female patient; mayer-rokitansky-küster-hauser (mrkh) syndrome; mullerian agenesis; murcs; renal agenesis; uterovaginal aplasia.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. CT scan of the abdomen and pelvis showing the presence of a solitary right-sided ectopic kidney
Figure 2
Figure 2. CT scan of the abdomen and pelvis showing the presence of a solitary right-sided ectopic kidney with a dilated extrarenal pelvis and right-sided hydroureter
See this image and copyright information in PMC

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