Abstract

The diagnosis of primary ovarian insufficiency (POI) has untold effects on women and a better understanding alongside potential treatments are paramount to improve quality of life of these women. Various causes have been linked to the development of POI with genetics playing a key role. A better understanding of the genetics of POI could lead to earlier diagnosis and broaden fertility options. This chapter discusses previously known and more recently discovered genes that have been implicated in the development of POI. It explores the varying phenotypic expressions of some genes in different populations and areas for further research in the genetics of POI.

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