ABSTRACT
Background: Polycystic ovary syndrome (PCOS) is an endocrine disorder and the criteria are specified by common complex genetic hyperandrogenism, oligomenorrhea or amenorrhea and polycystic ovary morphology. It is a leading cause of female infertility. The prevelance of PCOS among reproductive age women has been estimated to be 4-12%. The association between PCOS and FSH receptor (FSHR) polymorphism attracts wide attention. The aim of the present study was to evaluate whether polymorphism of FSHR at Ala307Thr codon is associated with PCOS and with clinical features of PCOS patients in Egypt. Results: PCOS patients (n=64) and control subjects (n=65) in the reproductive age were recruited from the outpatient clinic of Obstetrics and Gynecology Department, Mansoura University, Egypt. The Ala307Thr polymorphism in FSHR, and the frequency of respective genotypes was studied and statistical analysis was performed. We found that the heterozygote Ala/Thr genotype was associated with PCOS (64.1%, OR=2.68, CI=0.97, P= 0.033) compared with controls. Conclusion: The variant of Ala307Thr polymorphism of FSHR was associated with PCOS but it may be related to high total testosterone levels. In addition the FSHR polymorphism was not associated with either luteinizing hormone or follicular stimulating hormone. The present study suggests that the variant of the FSHR gene may act as a causative factor of PCOS in Egyptian women.