Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism
Author(s) -
Taneli Raivio,
Yisrael Sidis,
Lacey Plummer,
Huaibin Chen,
Jinghong Ma,
Abir Mukherjee,
Elka Jacobson-Dickman,
Richard Quinton,
Guy Van Vliet,
Hélène B. Lavoie,
Virginia Hughes,
Andrew Dwyer,
Frances J. Hayes,
Shuyun Xu,
Susan Sparks,
Ursula B. Kaiser,
Moosa Mohammadi,
Nelly Pitteloud
Publication year - 2009
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-0179
Subject(s) - kallmann syndrome , hypogonadotropic hypogonadism , fibroblast growth factor receptor 1 , endocrinology , medicine , biology , mutation , context (archaeology) , mutant , genetics , receptor , fibroblast growth factor , gene , disease , covid-19 , hormone , infectious disease (medical specialty) , paleontology
FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. Recently cases of idiopathic hypogonadotropic hypogonadism (IHH) with a normal sense of smell (nIHH) have been reported.
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