Reference : Hypogonadism in a Patient with a Mutation in the Luteinizing Hormone Beta-Subunit Gene
Scientific journals : Article
Human health sciences : Endocrinology, metabolism & nutrition
Hypogonadism in a Patient with a Mutation in the Luteinizing Hormone Beta-Subunit Gene
Valdes Socin, Hernan Gonzalo [Université de Liège - ULiège > > Endocrinologie clinique >]
Salvi, R. [ > > ]
Daly, Adrian [Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie >]
Gaillard, R. C. [ > > ]
Quatresooz, Pascale [Centre Hospitalier Universitaire de Liège - CHU > > Dermatopathologie >]
Tebeu, P. M. [ > > ]
Pralong, F. P. [ > > ]
Beckers, Albert mailto [Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie]
New England Journal of Medicine
Massachusetts Medical Society
Yes (verified by ORBi)
[en] Genital diseases ; Medicine ; Gene ; Subunit ; Luteinizing hormone ; Genetics ; Mutation ; Human ; Hypogonadism
[fr] Appareil génital pathologie ; Médecine ; Gène ; Sousunité ; LH ; Génétique ; Mutation ; Homme ; Hypogonadisme
[en] 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.
Researchers ; Professionals

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