Human Reproduction Update, Vol.9, No.6 pp.523-530, 2003
© European Society of Human Reproduction and Embryology 2003; all rights reserved
Reproductive Genetics |
Clinical and molecular genetics of the human GnRH receptor
1 Pediatric Endocrinology, University Children’s Hospital, University of Ulm, 89075 Ulm 2 Division of Endocrinology, Department of Internal Medicine 1, University of Ulm, 89081 Ulm, Germany 3 INSERM U584, Hôpital Necker, 75006 Paris, France
To whom correspondence should be addressed at: University Children’s Hospital, University of Ulm, Prittwitzstrasse 43, D 89075 Ulm, Germany. e-mail beate.karges{at}medizin.uni\|[dash ]\|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.
Key words: gene mutation / GnRH receptor / G protein-coupled receptor / hypogonadotrophic hypogonadism / infertility
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