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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Inactivating KISS1 mutation and hypogonadotropic hypogonadism
New England Journal of Medicine, Volume 366, No. 7, Year 2012
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Description
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.). Copyright © 2012 Massachusetts Medical Society.
Authors & Co-Authors
Topaloǧlu, Ali Kemal
Turkey, Adana
Çukurova Üniversitesi
Tello, Javier A.
United Kingdom, Edinburgh
The University of Edinburgh
Kotan, L. Damla
Turkey, Adana
Çukurova Üniversitesi
Ozbek M, Mehmet N.
Turkey, Diyarbakir
Diyarbakir Children's Hospital
Yilmaz, Mehmet Bertan
Turkey, Adana
Çukurova Üniversitesi
Erdogan, Seref
Turkey, Adana
Çukurova Üniversitesi
Gurbuz, Fatih
Turkey, Adana
Çukurova Üniversitesi
Temiz, Fatih
Turkey, Adana
Çukurova Üniversitesi
Millar, Robert P.
United Kingdom, Edinburgh
The University of Edinburgh
South Africa, Pretoria
University of Pretoria
South Africa, Cape Town
University of Cape Town
Yüksel, Bi̇lgi̇n
Turkey, Adana
Çukurova Üniversitesi
Statistics
Citations: 398
Authors: 10
Affiliations: 5
Identifiers
Doi:
10.1056/NEJMoa1111184
ISSN:
00284793
e-ISSN:
15334406
Research Areas
Cancer