Titre
Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene
Type
étude de cas
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Valdes-Socin, H.
Auteure/Auteur
Salvi, R.
Auteure/Auteur
Daly, A. F.
Auteure/Auteur
Gaillard, R. C.
Auteure/Auteur
Quatresooz, P.
Auteure/Auteur
Tebeu, P. M.
Auteure/Auteur
Pralong, F. P.
Auteure/Auteur
Beckers, A.
Auteure/Auteur
Liens vers les personnes
rgaillar
Liens vers les unités
ISSN
1533-4406
Statut éditorial
Publié
Date de publication
2004-12
Volume
351
Numéro
25
Première page
2619
Dernière page/numéro d’article
25
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec 16
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec 16
Résumé
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.
Sujets
PID Serval
serval:BIB_F92358E98343
PMID
Date de création
2008-01-25T15:26:18.865Z
Date de création dans IRIS
2025-05-21T06:03:23Z