| Inactivating KISS1 mutation and hypogonadotropic hypogonadism. | |
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MedLine Citation:
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PMID: 22335740 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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.). |
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Authors:
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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 |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The New England journal of medicine Volume: 366 ISSN: 1533-4406 ISO Abbreviation: N. Engl. J. Med. Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-02-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0255562 Medline TA: N Engl J Med Country: United States |
Other Details:
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Languages: eng Pagination: 629-35 Citation Subset: AIM; IM |
Affiliation:
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Faculty of Medicine, Department of Pediatric Endocrinology, Cukurova University, Adana, Turkey. ktopaloglu@cu.edu.tr |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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