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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene
New England Journal of Medicine, Volume 351, No. 25, Year 2004
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Description
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. Copyright © 2004 Massachusetts Medical Society.
Authors & Co-Authors
Valdes-Socin, Hernán
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Salvi, Roberto
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Daly, Adrian F.
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Gaillard, Rolf C.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Quatresooz, P.
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Tebeu, Pierre Marie
Cameroon, Yaounde
Université de Yaoundé I
Pralong, Francois
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Beckers, Albert
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Statistics
Citations: 126
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1056/NEJMoa040326
ISSN:
00284793
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Sexual And Reproductive Health
Participants Gender
Male