Men Homozygous for an Inactivating Mutation of the Follicle-Stimulating Hormone (FSH) Receptor Gene Present Variable Suppression of Spermatogenesis and Fertility

摘要: Gonadal function is controlled by the two pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating (FSH). While LH mainly regulates gonadal steroidogenesis, FSH considered essential for folliculogenesis in female spermatogenesis male. We recently discovered that an inactivating point mutation receptor (R) gene causes a recessively inherited form of hypergonadotropic ovarian failure homozygous females. This 566C-->T mutation, predicting alanine to valine substitution, located exon 7 FSHR gene, region encoding extracellular domain molecule. Functional testing showed clear-cut reduction ligand binding signal transduction mutated receptor. Hence, lack incompatible with follicular maturation fertility. In male, generally pubertal initiation maintenance quantitatively normal sperm production adults. report here first characterization males mutation. They have variable degrees spermatogenic failure, but, surprisingly, do not show azoospermia or absolute infertility. These results question role spermatogenesis, demonstrate more important than male