FSH-R polymorphisms in women with infertility

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Follicle-stimulating hormone plays a crucial role during folliculogenesis by stimulating granulose-cell estrogen production through induction of aromatase activity. The action of FSH is mediated by the FSH receptor, which belongs to the large family of G-protein-coupled receptors. These receptors are characterized by a transmembrane domain consisting of seven membrane transversing α-helices connected by three extracellular and three intracellular loops. The FSH receptor gene is located at chromosome 2p2l to 16.In normogonadotropic normoestrogenic anovulatory infertility (World Health Organization class II), the response of the ovary to exogenous FSH administration varies considerably among patients. In a recent study, the individual FSH response dose for gonadotropin induction of ovulation in anovulatory infertile women could be predicted on the basis of initial screening characteristics, such as the initial FSH serum level. Recent observations in patients undergoing lVF suggest that the FSH receptor genotype is associated with different requirements for exogenous FSH.Recently, Sudo et al. reported a significant increase in the Ala/Thr 307 and Asn/Ser 680 genotype in a large cohort of women with PCOS.In normogonadotropic anovulatory infertile women, the overall frequency distribution for polymorphism at position 307 was 1% for Ala/Ala, 23% for Ala/Thr, and 66% for Thr/Thr ; for polymorphism at position 680, 66% for Asn/Asn, 23% for Asn/Ser, and 1% for Ser/Ser.