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

Details

Serval ID
serval:BIB_F92358E98343
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene
Journal
New England Journal of Medicine
Author(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)
Publication state
Published
Issued date
12/2004
Volume
351
Number
25
Pages
2619-25
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec 16
Abstract
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.
Keywords
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
Create date
25/01/2008 16:26
Last modification date
20/08/2019 16:25
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