Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.

Détails

ID Serval
serval:BIB_08D6940D2EE9
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
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
Périodique
Journal of Clinical Endocrinology and Metabolism
Auteur(s)
Pralong F.P., Gomez F., Castillo E., Cotecchia S., Abuin L., Aubert M.L., Portmann L., Gaillard R.C.
ISSN
0021-972X (Print)
ISSN-L
0021-972X
Statut éditorial
Publié
Date de publication
1999
Volume
84
Numéro
10
Pages
3811-3816
Langue
anglais
Résumé
In this study, we describe a patient with a phenotype of complete hypogonadotropic hypogonadism who presented primary failure of pulsatile GnRH therapy, but responded to exogenous gonadotropin administration. This patient bore a novel point mutation (T for A) at codon 168 of the gene encoding the GnRH receptor (GnRH-R), resulting in a serine to arginine change in the fourth transmembrane domain of the receptor. This novel mutation was present in the homozygous state in the patient, whereas it was in the heterozygous state in both phenotypically normal parents. When introduced into the complementary DNA coding for the GnRH-R, this mutation resulted in the complete loss of the receptor-mediated signaling response to GnRH. In conclusion, we report the first mutation of the GnRH-R gene that can induce a total loss of function of this receptor and is associated with a phenotype of complete hypogonadotropic hypogonadism.
Mots-clé
Adult, Amino Acid Sequence/genetics, Base Sequence/genetics, Homozygote, Humans, Hypogonadism/genetics, Male, Point Mutation/genetics, Receptors, LHRH/antagonists & inhibitors, Receptors, LHRH/genetics
Pubmed
Web of science
Création de la notice
24/01/2008 11:05
Dernière modification de la notice
20/08/2019 12:31
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