This review focuses on KISS1 and KISS1R mutations found in CPP and IHH and its purposes are twofold: Firstly, based on the mutations found in KISS1 and KISS1R, this review provides insights into the precise mechanism of kisspeptin and the kisspeptin/Kiss1R pathway in the reproductive axis and in puberty.
Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or from loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.
The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset, yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated.