Inactivating KISS1 mutation and hypogonadotropic hypogonadism

A Kemal Topaloglu, Javier Tello, Damla Kotan, Mehmet Ozbek, Bertan Yilmaz, Seref Erdogan, Fatih Gurbuz, Fatih Temiz, Robert Millar, Bilgin Yuksel

Research output: Contribution to journalArticlepeer-review

306 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)629-635
Number of pages7
JournalNew England Journal of Medicine
Issue number7
Publication statusPublished - 16 Feb 2012


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