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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
引用本文:王阳,陈小攀,舒静. 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[J]. 中华生殖与避孕杂志, 2022, 0(1): 96-103
作者姓名:王阳  陈小攀  舒静
作者单位:温州医科大学;浙江省人民医院
基金项目:国家自然科学基金(81701460);浙江省医药卫生科技计划(2019KY033,2019KY021,2020KY414,2020KY448);生殖遗传教育部重点实验室(浙江大学)开放基金(ZDFY2020-RG-0006)。
摘    要:卵泡刺激素(follicle-stimulating hormone,FSH)通过激活靶细胞上特定的FSH受体(FSH receptor,FSHR)而发挥作用。FSHR对女性卵泡的发育和雌二醇生成,以及对男性睾丸支持细胞的功能维持和精子形成具有至关重要的作用。在过去的二十余年中,已通过较多的病例鉴定了 FS...

关 键 词:卵泡刺激素受体  失活突变  早发型卵巢功能不全  卵巢抵抗综合征  卵巢早衰  闭经

Research advances in the decreased ovarian function of follicle-stimulating hormone receptor inactivating mutations
Wang Yang,Chen Xiaopan,Shu Jing. Research advances in the decreased ovarian function of follicle-stimulating hormone receptor inactivating mutations[J]. Chinese Journal of Reproduction and Contraception, 2022, 0(1): 96-103
Authors:Wang Yang  Chen Xiaopan  Shu Jing
Affiliation:(Wenzhou Medical University,Wenzhou 325035,China;Zhejiang Provincial People's Hospital,Affiliated People's Hospital,Hangzhou Medical College,Hangzhou 310014,China)
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.
Keywords:Follicle-stimulating hormone receptor  Inactivating mutation  Premature ovarian insufficiency  Resistant ovary syndrome  Premature ovarian failure  Amenorrhea
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