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Many mutations change the function of FSHR (follicle-stimulating hormone receptor) at the plasma membrane. Mutations in FSHR can lead to ovarian dysgenesis and high gonadotropin levels. We aimed to investigate and compare the frequency of FSHR polymorphism (Ala307Thr and Ser680Asn) in fertile and infertile women. Our study enrolled all of the patients between 21 and 39 years of age who were admitted to the Department of Obstetrics and Gynecology at Akdeniz University between May 2009 and November 2010. The patients were divided into two groups corresponding to fertile and infertile. The infertile patients were divided into two subgroups corresponding to good and poor responders based on their response to fertility treatment. The genomic DNA was analyzed, and the Ala307Thr and Ser680Asn polymorphisms were screened in each group. We determined that in the good responder group, homozygosity for the polymorphisms was significantly less frequent (p=0.013). We also found that in the good responder group, the homozygous genotype (A/A) for the Ser680Asn polymorphism was significantly less frequent (p=0.013). In the poor responder group, heterozygosity for the polymorphism Ser680Asn was significantly more frequent (p=0.031). Because a high frequency of the homozygous genotype was found in the control group, we are unable to conclude that a homozygous genotype for these polymorphisms leads to a poor FSH receptor response. However, the frequency of the homozygous genotype was high for both Ser680Asn and Ala307Thr in the poor responder group. Doubleblinded, randomized, controlled, and prospective studies should be conducted with larger samples to reach a definite conclusion.
FSHR polymorphism, Ala307Thr, Ser680Asn, fertility, ovarian response