Premature ovarian insufficiency (POI) is a serious threat to female reproductive health, and its etiology is complex and highly heterogeneous, and genetic factors play an important role in the pathogenesis. Traditional methods have identified a variety of key genetic factors for POI, such as chromosomal abnormalities and gene mutations, but it is difficult to fully understand the genetic mechanism of POI. In recent years, high⁃throughput sequencing technique has significantly improved the ability to identify pathogenic genes and revealed the key roles of molecular mechanism such as DNA repair, meiosis and transcriptional regulation in POI. In addition, complex polygenic genetic mechanism and non⁃Mendelian genetic mechanism provide new perspectives for accurate diagnosis and personalized treatment of POI. Stem cell and organoid techniques have exhibited potential in disease modeling and treatment research of POI, but safety and effectiveness issues still need to be addressed. This review integrates the latest progress in genetic research related to POI, and looks forward to future research directions, in order to promote the improvement of diagnosis and treatment of this disease and benefit patients.

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