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.
Recent human studies implicated the activation of kisspeptin and its cognate receptor (KISS1/KISS1R) and the inactivation of MKRN3 in the premature reactivation of GnRH secretion, causing central precocious puberty (CPP).
Mutations in the GPR54 gene have already been identified as a cause of idiopathic hypogonadotrophic hypogonadism and central precocious puberty (CPP) in certain patients.
One polymorphism in GPR54 gene might be correlated with some cases of CPP, likely by changes in expression of the receptor, but the moderate p value and the lack of functional data make it hard to confirm the correlation.
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.