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Genetics of premature ovarian failure

Bilgin, Ekrem M.; Kovanci, Ertug

Current Opinion in Obstetrics and Gynecology: June 2015 - Volume 27 - Issue 3 - p 167–174
doi: 10.1097/GCO.0000000000000177
FERTILITY, IVF AND REPRODUCTIVE GENETICS: Edited by Emre Seli and Juan Antonio García Velasco

Purpose of review To provide an overview on the genetic basis of premature ovarian failure (POF) with specific attention to recently published molecular genetic studies.

Recent findings POF is an insidious cause of female infertility. Despite enormous efforts to understand the genetic pathogenesis, we know almost nothing but Turner syndrome and Fragile X syndrome. The era of genome-wide association studies opened a new window into the understanding of the complex, polygenic nature of ovarian failure by identifying several candidate regions. Most of the genes in these regions are waiting for confirmation in isolated POF cohorts. Recently, molecular evidence on the regulatory role of small noncoding RNAs in folliculogenesis and oocyte development began to emerge. The association between certain microRNA polymorphisms and POF has been reported.

Summary Although there exist numerous candidate genes in the literature, a few of them have comprehensive and consistent molecular workup that showed strong genotype/phenotype association.

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Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA

Correspondence to Ertug Kovanci, MD, Obstetrics and Gynecology, Baylor College of Medicine, 7900 Fannin Street, Suite 4400, Houston, TX 77054, USA. Tel: +1 713 512 7064; fax: +1 713 512 7829; e-mail:

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