AI Article Synopsis
- Primary ovarian insufficiency (POI) affects about 1% of women under 40, with recent advances in genetic research highlighting its complex molecular causes and identifying many contributing genes.
- Genetic studies suggest that common genetic factors link POI to reproductive aging, allowing for better understanding and potential treatment options.
- New treatments, like activating dormant ovarian follicles through in vitro methods, have shown promising results in addressing fertility issues related to POI.
Article Abstract
Primary ovarian insufficiency (POI) affects ∼1% of women before 40 years of age. The recent leap in genetic knowledge obtained by next generation sequencing (NGS) together with animal models has further elucidated its molecular pathogenesis, identifying novel genes/pathways. Mutations of >60 genes emphasize high genetic heterogeneity. Genome-wide association studies have revealed a shared genetic background between POI and reproductive aging. NGS will provide a genetic diagnosis leading to genetic/therapeutic counseling: first, defects in meiosis or DNA repair genes may predispose to tumors; and second, specific gene defects may predict the risk of rapid loss of a persistent ovarian reserve, an important determinant in fertility preservation. Indeed, a recent innovative treatment of POI by in vitro activation of dormant follicles proved to be successful.
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| http://dx.doi.org/10.1016/j.tem.2018.03.010 | DOI Listing |
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