Normal Spermatogenesis in a Man with Mutant Luteinizing Hormone

The presence of a partially inactivating mutation in LHB, the gene encoding the beta subunit of luteinizing hormone, in a man with normal spermatogenesis suggests that high levels of intratesticular testosterone may not be necessary for the development of sperm. The presence of a partially inactivating mutation in LHB, the gene encoding the beta subunit of luteinizing hormone, in a man with normal spermatogenesis suggests that high levels of intratesticular testosterone may not be necessary for the development of sperm. Mutations that abolish the activity of luteinizing hormone are rare; they have been reported in five men and one woman. 1 – 5 The phenotypes of these persons suggest that luteinizing hormone is not required for male sexual differentiation but is critical to the proliferation and function of Leydig cells and to the induction of puberty. Infertility and very low levels of spermatogenesis persist in the affected men, despite long-term exposure to human chorionic gonadotropin, suggesting that the absence of perinatal exposure to luteinizing hormone alters Leydig cells' proliferation and maturation, impairing the onset of normal spermatogenesis, which is thought to be . . .