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Abstract

April to June 2018 | Vol. 11 | Issue 2 | 10-17
Genetics of Premature Ovarian Failure
Vijayalakshmi SR, Shagun Aggarwal
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad
Address for Correspondence Email: shagun.genetics@gmail.com
 
Abstract
The term premature ovarian failure (POF) refers to the cessation of menses in a woman prior to the age of forty years. It is characterized by amenorrhea (either primary or secondary) and hypergonadotropic hypogonadism (level of serum follicle stimulating hormone (FSH) >40mIU/ml) (Coulam et al.,1982). The general prevalence of POF is approximately 1% (Coulam et al., 1986). It is an etiologically heterogeneous disorder with autoimmune, infectious, iatrogenic, environmental and genetic causes being implicated. Yet, in nearly half of these cases, the cause remains unknown and is proposed to be multifactorial. Nevertheless, approximately 10%–15% of these idiopathic cases have an affected first-degree relative suggesting a strong genetic component (Van Kasteren et al., 1999). Overall, cytogenetic, cyto-genomic and whole genome approaches have shown that approximately 20 to 25% cases of premature ovarian insufficiency are of genetic etiology (Qin et al., 2015).
 
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