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

Détails

ID Serval
serval:BIB_F92358E98343
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene
Périodique
New England Journal of Medicine
Auteur(s)
Valdes-Socin  H., Salvi  R., Daly  A. F., Gaillard  R. C., Quatresooz  P., Tebeu  P. M., Pralong  F. P., Beckers  A.
ISSN
1533-4406 (Electronic)
Statut éditorial
Publié
Date de publication
12/2004
Volume
351
Numéro
25
Pages
2619-25
Notes
Case Reports
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.
Mots-clé
Adult Chorionic Gonadotropin/pharmacology/therapeutic use Humans Hypogonadism/drug therapy/*genetics/pathology Infertility, Male/drug therapy/genetics Luteinizing Hormone, beta Subunit/*genetics Male *Mutation, Missense Puberty, Delayed/drug therapy/genetics Sequence Analysis, DNA Spermatogenesis/drug effects Testis/pathology Testosterone/blood
Pubmed
Web of science
Création de la notice
25/01/2008 17:26
Dernière modification de la notice
03/03/2018 22:53
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