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

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

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FSHR基因失活、激活的突变位点以及单核苷酸多态性。FSHR基因型-表型的相关性研究和突变受体体外功能实验研究有助于了解患者不孕的遗传学原因。本综述总结已报道的FSHR基因不同部位的失活突变及其对女性生殖系统的功能影响。

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.