The gonadotropin-releasing hormone (GnRH) receptor is a plasma membrane glycoprotein that mediates the binding and intracellular signaling of GnRH. GnRH is responsible for the synthesis and release of the pituitary gonadotropins, luteinizing hormone, and follicle-stimulating hormone. Mutations in the GNRHR may lead to structural alterations of the receptor protein and, consequently, to abnormal GnRH receptor cellular distribution and/or function (agonist binding, activation and/or effector coupling), thereby causing isolated hypogonadotropic hypogonadism.
