Follicle-stimulating hormone insensitivity

Follicle-stimulating hormone insensitivity, also called ovarian follicle hypoplasia or granulosa cell hypoplasia in females, is a rare autosomal recessive endocrine disorder in which the body cells fail to respond properly to follicle-stimulating hormone, the hormone that normally drives estrogen production and fertility. It results from inactivating mutations in the follicle-stimulating hormone receptor gene, which prevent granulosa cells in the ovary and Sertoli cells in the testis from responding to the hormone signal. In females this causes underdeveloped ovarian follicles, low to normal estrogen levels, elevated levels of other reproductive hormones, delayed or absent puberty, absent menstruation and infertility, while in males it causes reduced sperm production and varying degrees of infertility that are generally much milder than in females; hormone replacement therapy can address the low estrogen in affected women, but no treatment currently exists for the infertility itself.