The reproductive phenotypes of nearly two dozen patients with mutations in GPR54 have
been reported, as have the phenotypes of four mouse lines mutant for Gpr54 and two lines
mutant for Kiss1. These phenotypes demonstrate that kisspeptin/Gpr54 function is required
at all phases of the life cycle when the secretion of gonadotropin-releasing hormone (GnRH)
is robust. Furthermore, there is phenotypic variability ranging from severe hypogonadism to
partial sexual development. Collectively, these findings suggest that kisspeptin and Gpr54 …