Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene

In normal males, luteinizing hormone (LH) regulates the function of Leydig cells and, hence, male sexual differentiation, pubertal androgenization, male sexual function, and fertility. Abnormalities in the function of Leydig cells result in primary hypogonadism and varying degrees of male pseudohermaphroditism.1-5 In these patients, Leydig cells are absent, hypoplastic, or unresponsive to stimulation with human chorionic gonadotropin (hCG), and studies of testicular-biopsy samples from some patients have revealed the absence of LH receptors.2,3 In normal women, LH stimulates the theca cells to produce androgen precursors for aromatization to estradiol by granulosa cells during the follicular phase of the menstrual cycle. . . .