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Previous Volume 361:1856-1863 November 5, 2009 Number 19 Next

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SUMMARY

Men with mutations in LHB, the gene encoding the beta subunit of luteinizing hormone (LHB), have azoospermia with absent or few fetal Leydig cells. We report a mutation in LHB in a man and his sister. The man presented with absence of virilization, undetectable luteinizing hormone, and a low serum testosterone level. He had complete spermatogenesis with a normal sperm count. The mutant luteinizing hormone had a low level of partial activity in vitro. We concluded that the residual luteinizing hormone activity, resulting in the expression of steroidogenic enzymes in few mature Leydig cells producing small amounts of intratesticular testosterone (20.2 ng per gram), was sufficient for complete and quantitatively normal spermatogenesis.

Source Information

From INSERM Unité 854, University Paris South 11 (C.A., O.L., M.M.); and the Laboratories of Molecular Genetics, Pharmacology, and Hormonology (G.M., M.M.) and Biological Andrology (J.-C.S.), Assistance Publique–Hôpitaux de Paris; and INSERM Unité 788 (P.L., M.S.) — all at Bicêtre Hospital, Le Kremlin Bicêtre, France; Université Paris VI, Department of Endocrinology and Reproductive Medicine, Pitié–Salpêtrière Hospital, and Centre des Maladies Endocriniennes Rares de la Croissance (C.C., A.B., F.K., P.T.) and University Paris Descartes (O.L., J.-C.S., M.M.) — all in Paris; and Abdou Hay Al Mahatta, Oujda, Morocco (H.B.).

Drs. Achard, Courtillot, and Lahuna contributed equally to this article, as did Drs. Touraine and Misrahi.

Address reprint requests to Dr. Misrahi at INSERM Unité 854, Laboratory of Molecular Genetics, Pharmacology, and Hormonology, Assistance Publique–Hôpitaux de Paris, Bicêtre Hospital, 94275 Le Kremlin Bicêtre, France, or at micheline.misrahi{at}bct.aphp.fr.

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