Faculty of Medicine, Department of Pediatric Endocrinology, Cukurova University, Adana, Turkey.
N Engl J Med. 2012 Feb 16;366(7):629-35. doi: 10.1056/NEJMoa1111184.
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. 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. (Funded by the Scientific and Technological Research Council of Turkey [TÜBİTAK] and others.).
促性腺激素释放激素（GnRH）是促性腺激素的中枢调节剂，可刺激性腺功能。产生 kisspeptin 和神经激肽 B 的下丘脑神经元刺激 GnRH 释放。编码人类 kisspeptin 受体（KISS1R，以前称为 GPR54）、神经激肽 B（TAC3）和神经激肽 B 受体（TACR3）的基因失活突变导致青春期失败。然而，尚未描述人类 kisspeptin 功能丧失突变，并且在 Kiss1 基因敲除小鼠中报告了矛盾的发现。我们描述了一个大型近亲繁殖家族中 KISS1 的失活突变，导致青春期进展失败，表明功能性 kisspeptin 对人类的青春期和生殖至关重要。（由土耳其科学技术研究理事会（TÜBİTAK）等资助）。
