Best practice & research. Clinical obstetrics & gynaecology · 2026
The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review.
СтатьяСистематический обзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Christopoulos Panagiotis, Tsarna Ermioni, Palamouti Vasiliki, Davouti Efstathia, Makrythanasis Periklis, Vlahos Nikolaos F
Аннотация
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.
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.