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

Details

Serval ID
serval:BIB_08D6940D2EE9
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
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor.
Journal
Journal of Clinical Endocrinology and Metabolism
Author(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
Publication state
Published
Issued date
1999
Volume
84
Number
10
Pages
3811-3816
Language
english
Abstract
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.
Keywords
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
Create date
24/01/2008 12:05
Last modification date
20/08/2019 13:31
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