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Title

Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor
Authors
Pralong, François Pierre
Gomez, François
Castillo Salgado, Einar Eugenio
Cotecchia, S
Abuin, L
Aubert, Michel
Portmann, L
Gaillard, Rolf Christian
Published in Journal of Clinical Endocrinology & Metabolism. 1999, vol. 84, no. 10, p. 3811-6
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/genetics
Identifiers
PMID: 10523035
Full text
Article (Published version) (1.2 MB) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Faculté de médecine / Section de médecine clinique / Département de médecine interne des spécialités
Faculté de médecine / Section de médecine clinique / Département de pédiatrie
Citation
(ISO format) 		PRALONG, François Pierre et al. Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. In: Journal of Clinical Endocrinology and Metabolism, 1999, vol. 84, n° 10, p. 3811-6. https://archive-ouverte.unige.ch/unige:74362

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Deposited on : 2015-07-27

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