[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: Mareo Yamoto
• Journal: Nihon rinsho. Japanese journal of clinical medicine (Nihon Rinsho) Vol. 60 Issue 2 Pg. 272-6 (Feb 2002) ISSN: 0047-1852 [Print] Japan
• PMID: 11857913 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Receptors, FSH

Topics

• Female
• Gonadal Dysgenesis (genetics)
• Humans
• Male
• Mutation
• Receptors, FSH (genetics)