Genetics and Female Reproduction

Abstract

Is female infertility due to environment or to gene defects? Up
to now, few genes have been related to diseases involved in
female reproduction. In endometriosis and polycystic ovaries,
although many candidate genes have been described, none
represents a strong gene so far. In women with anovulation,
21 hydroxylase deficiency represents a well known autosomic
recessive disease, causing hyperandrogenism. In anovulation
due to hypogonadotropic hypogonadism (HH), several mutations have been identified in different genes such as FGFR1,
prokineticine receptor, prokineticine, FGF8 and CHD7. In
HH, in the absence of anosmia, mutations of GnRH receptor or GPR54 genes have been found. In premature ovarian
failure (POF), around ten autosomal genes have been involved. In the past ten years. Furthermore, premutations of
FMR1 gene, in Xq27 should be looked for, because a number of CGG triplets between 60 to 200 increases the risk of
POF. Very rare cases of WnT4 mutations have been identified in women in the absence of uterus. Finally, in cases of
repeated pregnancy loss, a mutation of factor V Leiden or
mutations of prothrombin gene should be excluded.