Hypogonadism in a Patient with a Mutation in the Luteinizing Hormone Beta-Subunit Gene
Hernán Valdes-Socin, M.D., Roberto Salvi, Ph.D., Adrian F. Daly, M.B., M.Sc., Rolf C. Gaillard, M.D., Pascale Quatresooz, M.D., Pierre-Marie Tebeu, M.D., François P. Pralong, M.D., and Albert Beckers, M.D., Ph.D.
A 30-year-old man who presented with delayed puberty and infertilitywas found to have hypogonadism associated with an absence ofcirculating luteinizing hormone. The patient had a homozygousmissense mutation in the gene that encodes the beta subunitof luteinizing hormone (Gly36Asp), a mutation that disrupteda vital cystine knot motif and abrogated the heterodimerizationand secretion of luteinizing hormone. Treatment with human chorionicgonadotropin increased circulating testosterone, promoted virilization,and was associated with the appearance of normal spermatozoain low concentrations. This case illustrates the important physiologicalrole that luteinizing hormone plays in male sexual maturationand fertility.
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From the Departments of Endocrinology (H.V.-S., A.F.D., A.B.) and Dermatopathology (P.Q.), Centre Hospitalier Universitaire de Liège, Domaine du Sart-Tilman, Liege, Belgium; the Division of Endocrinology, Diabetology, and Metabolism, University Hospital, Lausanne, Switzerland (R.S., R.C.G., F.P.P.); and the Department of Obstetrics and Gynecology, University of Yaoundé, Cameroon (P.-M.T.). Drs. Valdes-Socin and Salvi contributed equally to this article.
Address reprint requests to Dr. Beckers at the Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine du Sart-Tilman, 4000 Liege, Belgium, or at albert.beckers{at}chu.ulg.ac.be.
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