Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation
New England Journal of Medicine, Volume 360, No. 26, Year 2009
Notification
URL copied to clipboard!
Description
We investigated whether mutations in the gene encoding gonadotropin- releasing hormone 1 (GNRH1) might be responsible for idiopathic hypogonadotropic hypogonadism (IHH) in humans. We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide-containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. Their unaffected parents and a sibling who was tested were heterozygous. This mutation results in an aberrant peptide lacking the conserved GnRH decapeptide sequence, as shown by the absence of immunoreactive GnRH when expressed in vitro. This isolated autosomal recessive GnRH deficiency, reversed by pulsatile GnRH administration, shows the pivotal role of GnRH in human reproduction. Copyright © 2009 Massachusetts Medical Society.
Authors & Co-Authors
Bouligand, Jérôme
France, Gif-sur-yvette
Université Paris-saclay
France, Le Kremlin-bicetre
Lab. de Génétique Moléculaire
Ghervan, Cristina Mariana Valeria
Romania, Cluj Napoca
Universitatea de Medicina si Farmacie Iuliu Hatieganu Din Cluj-napoca
Tello, Javier A.
United Kingdom, Edinburgh
University of Edinburgh, College of Medicine and Veterinary Medicine
Brailly-Tabard, Sylvie
France, Gif-sur-yvette
Université Paris-saclay
France, Le Kremlin-bicetre
Lab. de Génétique Moléculaire
Salenave, Sylvie
France, Le Kremlin-bicetre
Centre de Référence Des Maladies Endocriniennes Rares de la Croissance
Chanson, Philippe
France, Gif-sur-yvette
Université Paris-saclay
France, Le Kremlin-bicetre
Centre de Référence Des Maladies Endocriniennes Rares de la Croissance
Lombés, Marc
France, Gif-sur-yvette
Université Paris-saclay
France, Le Kremlin-bicetre
Centre de Référence Des Maladies Endocriniennes Rares de la Croissance
Millar, Robert P.
United Kingdom, Edinburgh
University of Edinburgh, College of Medicine and Veterinary Medicine
South Africa, Cape Town
University of Cape Town
Guiochon-Mantel, Anne
France, Gif-sur-yvette
Université Paris-saclay
France, Le Kremlin-bicetre
Lab. de Génétique Moléculaire
Young, Jacques M.
France, Gif-sur-yvette
Université Paris-saclay
France, Le Kremlin-bicetre
Centre de Référence Des Maladies Endocriniennes Rares de la Croissance
France, Le Kremlin-bicetre
Hopital de Bicetre
Statistics
Citations: 253
Authors: 10
Affiliations: 7
Identifiers
Doi:
10.1056/NEJMoa0900136
ISSN:
00284793
e-ISSN:
15334406
Research Areas
Cancer
Genetics And Genomics