The Role of Genetic Mutations in Ovarian Function and Female Infertility

Background and Purpose:

Mutations in genes are implicated in disorders of ovarian function and fertility in women. Keeping in mind these mutations may help address some of the mechanistic processes leading to female infertility. The present study was carried out to investigate the influence of genetic mutations on ovarian function and to establish its correlation with infertility in women attending hospitals in Baghdad.

Methods: This study was cross-sectional. It comprised 100 women with infertility. Demographic, diagnostic, and clinical data were collected. The women had genetic testing for common mutations, and various outcomes related to ovarian function were assessed.

Outcomes: Of all women tested, 25% had putative gene mutations, and the most frequent mutation detected was MTHFR. Diagnostic testing of the parameters indicated 45% abnormalities in hormonal profiles. Also, the quality of life was significantly affected psychologically by infertility.

Summary: Genetic mutations greatly influence ovarian function and infertility in women. This study elucidates the need for genetic screening among women to enhance the management and treatment of infertility.