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Updated: Jun 21, 2026

Dual Somatic Recordings from Gonadotropin-Releasing Hormone (GnRH) Neurons Identified by Green Fluorescent Protein (GFP) in Hypothalamic Slices
Published on: February 24, 2010
Clinical and molecular genetics of the human GnRH receptor
Beate Karges1, Wolfram Karges, Nicolas de Roux
1Pediatric Endocrinology, University Children's Hospital, University of Ulm, 89075 Ulm, Germany. beate.karges@medizin.uni-ulm.de
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.
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