FOLLICLE-STIMULATING HORMONE RECEPTOR MUTATIONS IN SUDANESE WOMEN: A STUDY ON POLYCYSTIC OVARY SYNDROME

Abstract

Polycystic Ovary Syndrome (PCOS) or the polycystic ovarian syndrome is one of the most prevalent endocrinal disorders in women of the reproductive age and is defined with characteristic features such as oligoovulation and hyperandrogenism. The study aims to investigate genetic mutation in the follicle-stimulating hormone receptor (FSHR) in PCOS Sudanese women and its correlation with hormonal profiles and clinical patterns of this syndrome. This is a cross-section study recruited 80 subjects; forty women diagnosed with PCOS by Rotterdam criteria and forty healthy control subjects. Evaluated the genetic variations of FSHR including DNA extraction, polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The results showed that there were no significant between-group differences noted for basal levels of follicle-stimulating hormone and luteinizing hormone. Indeed, 50 percent of the women with PCOS were positive for the FSHR gene mutation compared to just 37.5 percent of the controls, a finding that, although not statistically significant, is suggestive. Moreover, 60% of cases had a positive family history of PCOS. These findings underscore the need for more details about the genetic and ecological risk factors that may pre-dispose this population to PCOS. A better understanding of these factors may contribute to improved management and treatment in females with the syndrome.