[Mutations in the follicle-stimulating hormone receptor genes in patients with gonadal dysfunction].

Abstract excerpt

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...

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