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Previous Volume 351:2619-2625 December 16, 2004 Number 25 Next

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SUMMARY

A 30-year-old man who presented with delayed puberty and infertility was found to have hypogonadism associated with an absence of circulating luteinizing hormone. The patient had a homozygous missense mutation in the gene that encodes the beta subunit of luteinizing hormone (Gly36Asp), a mutation that disrupted a vital cystine knot motif and abrogated the heterodimerization and secretion of luteinizing hormone. Treatment with human chorionic gonadotropin increased circulating testosterone, promoted virilization, and was associated with the appearance of normal spermatozoa in low concentrations. This case illustrates the important physiological role that luteinizing hormone plays in male sexual maturation and fertility.

Source Information

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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