Article
A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.
The Journal of clinical endocrinology and metabolism - 1 Mar 2011
Nimri Revital, Lebenthal Yael, Lazar Liora, Chevrier Lucie, Phillip Moshe, Bar Meytal, Hernandez-Mora Eva, de Roux Nicolas, Gat-Yablonski Galia
Abstract excerpt
CONTEXT: The G protein-coupled receptor 54 (GPR54), the kisspeptin receptor, is essential for stimulation of GnRH secretion and induction of puberty. Recently loss-of-function mutations of the GPR54 have been implicated as a cause of isolated idiopathic hypogonadotropic hypogonadism (IHH). OBJECTIVE: The objective of the study was to identify the genetic cause of IHH in a consanguineous pedigree and to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.