Genetics of Hypogonadotropic Hypogonadism.
In Endocr Dev, Dec 2015
Also, discovery of mutations in KISS1/KISS1R and TAC3/TACR3 in kisspeptin and neurokinin B signaling, respectively, has provided major advancements in our understanding of the biology of the gonadotropin-releasing hormone pulse generator.
Inactivating KISS1 mutation and hypogonadotropic hypogonadism.
Adana, Turkey. In N Engl J Med, 2012
We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans.