ea0009p74 | Growth and development | BES2005
Semple R
, Achermann J
, Ellery J
, Farooqi I
, Karet F
, Stanhope R
, O'Rahilly S
, Aparicio S
It has recently been shown that loss-of-function mutations of the G protein coupled receptor GPR54 lead to isolated hypogonadotropic hypogonadism (IHH) in mice and humans. Such mutations are thought to be rare, even within the clinical IHH population, and only a handful of alleles have been described, making further screening of IHH populations imperative. We examined the genes encoding GPR54 and its putative endogenous ligand, kisspeptin-1, for mutations in a cohort of 30 pat...