Update on the genetics and genomics of premature ovarian insufficiency

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Tucker, Elena J. | Jaillard, Sylvie | Sinclair, Andrew H.

Edité par CCSD ; Elsevier -

International audience. Primary ovarian insufficiency (POI), affecting up to 1 in 100 females, is characterized by oligomenorrhea or amenorrhea with raised gonadotropins and low estradiol. It can result from failed ovarian development, follicular depletion, or dysfunction. Many studies have shown a genetic basis to POI with over 80 genes implicated in the condition. Our understanding of POI genetics is far from complete with most cases having no known cause. This chapter discusses the current knowledge of the genetic basis of POI. Identifying a genetic basis for POI enables personalized treatment, preemptive management, and counseling in affected family members and allows better understanding of disease mechanisms, which is necessary for the development of improved treatments. © 2023 Elsevier Inc. All rights reserved.

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