Genetics of premature ovarian failure

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

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.

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.