Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism

A. Kemal Topaloglu*, Javier A. Tello, L. Damla Kotan, Mehmet N. Ozbek, M. Bertan Yilmaz, Seref Erdogan, Fatih Gurbuz, Fatih Temiz, Robert P. Millar, Bilgin Yuksel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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 [TUBITAK] and others.)

Original languageEnglish
Pages (from-to)629-635
Number of pages7
JournalNew England Journal of Medicine
Volume366
Issue number7
DOIs
Publication statusPublished - 16 Feb 2012

Keywords

  • GENE
  • GONADOTROPIN-RELEASING-HORMONE
  • AXIS
  • GPR54
  • PROTEIN-COUPLED RECEPTOR
  • IN-VIVO
  • MUTANT MICE

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