A brief look at genetic basis of female infertility

Background: So many factors should contribute to a successful pregnancy. The importance of investigation into the underlying reasons of female infertility is obvious when the role of creating a healthy regeneration is considered, therefor many researches are done to discover the etiology of women’s infertility, and genetic deficiencies are prominent among them Methods: This review is an attempt to summarize the role of genetic factors in female infertility which is done by searching up-to-date articles of top researchers among journals with high impact factor.Results: Many studies are done by geneticists to discover the possible genetic reasons of infertility, but due to the heterogeneous nature of the conditions, determining the exact reason is difficult. However, the role of many genes is evident, and through them, mutations in some of them are associated with some of prevalent multifactorial diseases. In these cases, a combination of environmental factors and specific variants of genes are contributed to develop a fertility problem For instance, in some primary female infertilities including premature ovarian failure (POF), primary ovarian insufficiency(POI), polycystic ovary syndrome (PCOS), endometriosis, gonadal dysgenesis, Perrault syndrome and uterus fibroids, the role of numerous related loci are determined. It can also be occurred by a single gene mutation as some cases of POF, leiomyoma, Kallmann and fragile X syndromes.Sometimes the infertility is not the core problem but patients are experiencing it as one of the several clinical manifestations, as is seen in primary ciliary dyskinesia, galactosemia, leiomyomas, ataxia telangiectasia, autoimmune polyglandular syndrome (APS) type I and Angelman syndrome Reproductive incompetency might be seen in many cases of karyotype abnormalities, such as 47, XXX-syndrome (trisomy X) and Turner syndrome (monosomy X or 45, XO), mosaicism of 45, X / 47, XXX and 45, X / 46, XX.Finally, there are reports of rare genetic mutations which have affected a limited number of patients Conclusion: Nowadays lots of efforts are done concerning the genetic basis of female infertility but too many disquisitions should be accomplished yet. Expanding genetic data banks about infertility can be profitable in compiling suitable guidelines for counselling, diagnosis and treating patients

Keywords:

female Infertility , genetics , genetic testing , multifactorial disease , single gene disease