Activating and inactivating mutations in LH receptors

The glycoprotein hormones luteinizing hormone (LH) and human chorionic gona dotropin (hCG), both of which act through the LH receptor, play an importan t role in the regulation of both male and female gonadal function. Testicul ar androgen production by the Leydig cells is almost entirely dependent on LH,hCG action, while in the ovary LH triggers both oestrogen and progestin secretion and ovulation of the Graaffian follicles. In this review we discu ss the various mutations that have been found in the LH receptor gene in th e human and the lessons that can be learned from the phenotypes of the carr iers of these mutations. (C) 1998 Elsevier Science Ireland Ltd. All rights reserved.