Clinical and molecular genetics of the human GnRH receptor

Open Access
Publisher Website
Google Scholar
Abstract
A functional GnRH receptor (GnRH‐R) in the anterior pituitary is critical for normal LH/FSH secretion, pubertal development and reproduction. Inactivating mutations of the GnRH‐R have been identified in patients with idiopathic hypogonadotrophic hypogonadism. In this article we summarize phenotypic characteristics of these patients and focus on specific functional alterations of the human GnRH‐R. In‐vitro studies using recombinant receptor constructs demonstrate that GnRH‐R missense mutations result in impaired ligand binding and reduced signal transduction, causing gonadotrophin deficiency. A detailed molecular understanding of receptor inactivation may help to design new GnRH agonists to therapeutically modulate GnRH‐R function.

This publication has 0 references indexed in Scilit: