• PMID: 15602022
• Gene Name: LHB
• Condition: Hypogonadism
• Association: Associated
• Mutation: LHB (G36D)
• Age: 30 yrs
• Sex: Male
• Infertility type: Male infertility
• Associated genes: LHB
• Other associated phenotypes: Hypogonadism

Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene

Valdes-Socin H, Salvi R, Daly AF, Gaillard RC, Quatresooz P, Tebeu PM, Pralong FP, Beckers A.

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. CI - Copyright 2004 Massachusetts Medical Society. FAU - Valdes-Socin, Hernán AU - Valdes-Socin H AD - Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine du Sart-Tilman, Liege, Belgium. FAU - Salvi, Roberto AU - Salvi R FAU - Daly, Adrian F AU - Daly AF FAU - Gaillard, Rolf C AU - Gaillard RC FAU - Quatresooz, Pascale AU - Quatresooz P FAU - Tebeu, Pierre-Marie AU - Tebeu PM FAU - Pralong, François P AU - Pralong FP