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Scientific article
Case report
English

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

Contributors

Pralong, François Pierre; Gomez, François; Castillo Salgado, Einar Eugenio; Cotecchia, S; Abuin, L; Aubert, Michel; Portmann, L; Gaillard, Rolf Christian

Published in

The Journal of clinical endocrinology and metabolism, vol. 84, no. 10, p. 3811-3816

Publication date

1999

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

UNIGE affiliation entities

Citation (ISO format)

PRALONG, François Pierre et al. Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. In: The Journal of clinical endocrinology and metabolism, 1999, vol. 84, n° 10, p. 3811–3816. doi: 10.1210/jcem.84.10.6042

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

0021-972X
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Technical informations

Creation

26/06/2015 12:08:00

First validation

26/06/2015 12:08:00

Update

14/03/2023 23:30:07

Status update

14/03/2023 23:30:07

Last indexation

31/10/2024 00:55:58
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