Kisspeptin／GPR54与特发性低促性腺激素性性腺功能减退症

Kisspeptin/GPR54 and idiopathic hypogonadotropic hypogonadism

特发性低促性腺激素性性腺功能减退症（IHH）主要表现为促性腺激素水平低下和性成熟障碍。迄今，对1HH的病因和发病机制了解甚少。近年来，在部分IHH家系中发现了G蛋白耦联受体54（GPR54）基因突变，进一步研究提示GPR54及其配体kisspeptin参与促性腺激素释放激素（GnRH）的分泌调节。Kisspeptin可以直接促进下丘脑GnRH分泌、介导性激素对GnRH的反馈调节，以及参与青春期启动等。因此认为，Kisspeptin／GPR54的基因突变是导致IHH的病因之一，同时kisspeptin／GPR54对下丘脑-垂体-性腺轴的正常功能起到重要参与作用。

The main clinical manifestations of idiopathic hypogonadotropic hypogonadism （IHH） are low levels of gonadotropin, impairment of pubertal maturation and reproductive function. The etiology and mechanism of IHH have not yet been clearly demonstrated. Recently, some gene mutations of G protein coupled receptor 54 （ GPR54 ） were identified in patients with IHH. Many studies show that GPR54 and its natural ligand, kisspeptin, play important roles in the regulation of GnRH secretion. Kisspeptin appears to stimulate GnRH secretion, feedbacks sex hormone signal to GnRH neurons, and participates in puberty initiation. Therefore,kisspeptin/GPR54 brings a new insight into the etiology of IHH.