The follicle stimulating hormone receptor (FSHR) plays a critical role in reproductive function. In the males, FSH supports spermatogenesis, whereas in females, FSH is absolutely required for ovarian follicle growth. In females, inactivating mutations in the FSHR result in ovarian dysgenesis with amenorrhea and infertility. The few males reported with severe inactivating mutations exhibited varying spermatogenic defects, but not azoospermia. While these findings may potentially suggest that FSH action is not absolutely required for spermatogenesis, it cannot be ruled out that these individuals have some residual FSHR activity. Gain-of-function mutations in the FSHR cause spontaneous ovarian hyperstimulation syndrome in females due to the inappropriate stimulation of the mutant FSHR by human choriogonadotropin.
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