MUTATIONS OF FOLLICLE-STIMULATING-HORMONE AND ITS RECEPTOR - EFFECTS ON GONADAL-FUNCTION

The physiological functions of the two gonadotropins, follicle-stimula ting hormone (FSH) and luteinizing hormone (LH), are quite well known in both males and females. Nevertheless, the recent unraveling of stru ctures of the gonadotropin and gonadotropin receptor genes has provide d us with tools to obtain completely new information on the functions of these hormones at the molecular level. Several gain-and loss-of-fun ction mutations of these genes have been discovered in humans, and the first knock-out experiments with these genes in the mouse have been r ecently published. The purpose of the present: review is to describe t he current state of knowledge on human mutations of FSH and its recept or, as well as on relevant animal models.