The Genetic of Premature Ovarian Insufficiency

Premature ovarian insufficiency (POI) is the cessation of menstruation before the age of ۴۰ (۱% of normal population) andcharacterized by amenorrhea, hypogonadism and elevated gonadotropinlevel.POI is a heterogeneous disease caused by a variety of mechanisms,including genetic, autoimmune, Iatrogenic and Idiopathic.Though the underlying cause remains unexplained in themajority of cases (۷۰%), various data indicate that POI has as trong genetic component.The mos t common genetic cause of POI is the X-Chromosomeabnormalities (eg, turner syndrome or X-S tructural abnormalities).Autosomal and X-linked mutations on the genesis of POIhas also been well described. Yet in mos t cases, the genetic originremains unknown and there are multiple candidate genes.In this review, I am going to introduce some of genetic abnormalitiesand genes associated with syndromic and non-syndromicPOI.The identification of several causative genes with GWAS andNGS s tudies may allow for early detection and would providebetter opportunity for early intervention, and will help directpotential targets for future treatment.