title: [Mutations in the follicle-stimulating hormone receptor genes in patients with gonadal dysfunction].
abstract: Follicle-stimulating hormone(FSH) plays important roles in gametogenesis and steroidogenesis in human gonads. Both activating and inactivating mutations have been detected only a few number in the gene for the FSH receptor. Inactivating mutations in the gene for the FSH receptor are involved in some female patients of hypergonadotropic hypogonadism with infertility. Only one activating mutation of FSH receptor was reported to have fertile functions in a hypophysectomized man. This article describes the reported genetic alterations of FSH receptor in humans and reviews how help us to understanding the molecular biology in the pathogenesis of gonadal dysfunction.
authors.affiliation: Department of Obstetrics and Gynecology, Wakayama Medical University.
authors.forename: Mareo
authors.initials: M
authors.lastname: Yamoto
mesh_terms: D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011962:Receptors, FSH / Q000235:genetics*
chemical_list: D011962:Receptors, FSH