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The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review
Lin He1, Shuya Chen1, Yujun Sun1
1Central Laboratory Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital Beijing China.
Background:
Müllerian duct anomalies (MDAs) are developmental malformations of the female genital tract that present as a series of abnormalities within the reproductive tracts of females. The etiology of MDAs is complex and heterogeneous, especially genetic factors.
Methods:
We conducted a comprehensive literature search in PubMed to identify relevant research articles and reviews. The search primarily targeted English-language publications from January 1978 to June 2025. Key search terms included Müllerian duct anomalies, Müllerian duct development, candidate gene, genetic, epigenetic, whole-exome sequencing, DNA methylation, chromosome, and related keywords.
Results:
This review provides a comprehensive overview of the genetic factors and mechanisms underlying human Müllerian duct development. It systematically examines the genetic mutations and other mechanisms contributing to Müllerian duct anomalies (MDAs), including candidate genes and epigenetic abnormalities. Furthermore, the review summarizes recent advances in MDAs research and the digenic mode of inheritance.
Conclusion:
We summarized the current genetic status of MDAs and discussed the research progress of relevant candidate genes in recent years in detail, and reviewed the reasons hindering progress in the field of MDAs.
