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Updated: Feb 1, 2026

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome
Published on: May 10, 2022
The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review
Panagiotis Christopoulos1, Ermioni Tsarna1, Vasiliki Palamouti2
1Second Department of Obstetrics and Gynecology, "Aretaieion" Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, 11528, Athens, Greece.
Introduction:
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the congenital absence of the uterus and upper vagina, resulting from failed Müllerian duct development during embryogenesis. Given advancements in reproductive medicine enabling genetic motherhood, this study aims to systematically review published research on the genetic and epigenetic factors contributing to MRKH etiopathogenesis.
Methods:
Original peer-reviewed studies were identified through a PubMed search and manual screening of references in included papers and relevant reviews.
Results:
From 494 records identified in PubMed and 43 through reference screening, 97 studies are included in this systematic review, with 17 examining MRKH patients with additional congenital anomalies or developmental disorders. Implicated genes include WNT and HOXA family members, TBX6, GREB1L, LHX1, LRP10, PAX8, and GATA3, while limited data suggest that the AMH gene and its promoter may act synergistically in combination with other genes. Chromosomal regions such as 17q12, 16p11, 1q21-q22, 22q11, 1q44, 16p13.3, and Xp22.3 may also contribute to MRKH pathogenesis. Findings on epigenetic regulation show variability, with no consistent patterns of specific gene upregulation or downregulation.
Conclusions:
Genetic aberrations explain the MRKH phenotype in only a subset of cases. Identifying genetic causes enables more targeted genetic counseling in the context of potential genetic motherhood. However, counseling remains complex due to variable expressivity and the poorly understood roles of epigenetic and environmental factors.
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