Poor ovarian response (POR) is an infertility disorder in which women’s ovaries do not response to gonadotropins properly. Any deficiency in the genes of hormones in hypothalamic-pituitary-gonadal pathway and their receptors could be the etiology for the progression of the disease. Throughout folliculogenesis,
FSH receptor starts a signaling cascade in the granulosa cells after its activation by FSH. Inactivating of this receptor may arrest follicle maturation and therefore adversely effects on ovarian response. The aim of this study was to investigate the association between any alterations in
FSH receptor gene with ovarian response to gonadotropins, in order to find a potential predictor for ovarian response of each infertile woman to those gonadotropins. In a case control study comprised of 60 POR and 80 fertile Iranian women, the presence of 566C> T, 1555C> A and 1043C> G mutations and 919G> A, 1572C> G, 1993A> G and -29G> A polymorphisms of the FSHR gene were analyzed by PCR-Sequencing methods. The mRNA expression of FSHR gene was also studied in granulosa cells of 20 POR and normal ovarian response patients by real time-PCR. Although the common 919G> A and -29G> A polymorphisms were seen, no other variants were detected. Different genotypes of -29G> A and 919G> A polymorphisms were seen in the mentioned groups, which statistically significant differences were seen in both polymorphisms when comparing the control group with POR patients. The other above mentioned FSHR gene variants, are not frequent in Iranian POR patients; thus, studying other allelic variants in a larger Iranian population is suggested. A decrease in the mRNA expression of POR patients compared to the control group was also observed but it was not statistically significant (P value ≥ 0.05). Accordingly, -29G> A and 919G> A polymorphisms in the FSHR gene might be associated with poor response to gonadotropins but they might not have an effect at the FSHR expression level.