Open AccessTAC3andTACR3Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans
Author(s) -
Jacques Young,
Jérôme Bouligand,
Bruno Francou,
Marie-Laure Raffin-Sanson,
Stéphanie Gaillez,
Marc Jeanpierre,
Michaël Grynberg,
Peter Kamenický,
Philippe Chanson,
Sylvie BraillyTabard,
Anne GuiochonMantel
Publication year - 2010
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-2600
Subject(s) - hypogonadotropic hypogonadism , medicine , pediatrics , endocrinology , hormone
Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B and its receptor NK3R, respectively, were recently discovered in kindreds with nonsyndromic normosmic congenital hypogonadotropic hypogonadism (CHH), thus identifying a fundamental role of this pathway in the human gonadotrope axis.
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