Research advances in the decreased ovarian function of follicle-stimulating hormone receptor inactivating mutations

VernacularTitle:卵泡刺激素受体基因失活突变导致卵巢功能减退的研究进展
Author: Yang WANG ¹ ; Xiaopan CHEN ; Jing SHU
Author Information

1. 温州医科大学，温州　325035
Publication Type:Journal Article
Keywords: Follicle-stimulating hormone receptor; Inactivating mutation; Premature ovarian insufficiency; Resistant ovary syndrome; Premature ovarian failure; Amenorr
From: Chinese Journal of Reproduction and Contraception 2022;42(1):96-103
CountryChina
Language:Chinese
Abstract: Follicle-stimulating hormone (FSH) brings about physiological actions by activating specific FSH receptor (FSHR) on target cells. FSHR plays an important role in the development of follicles, the production of estradiol in females, the maintenance of the function of testicular Sertoli cells and the spermatogenesis in males. In the past two decades, a large number of cases have been used to identify the inactivating/activating mutations and single nucleotide polymorphisms of FSHR gene. According to the genotype-phenotype correlation research and in vitro functional experiments of FSHR gene may help to understand the causes of infertility in affected patients. This review summarizes the inactivating mutations which have been reported in different parts of FSHR and their impacts on female reproductive system.