Article
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
The Journal of clinical endocrinology and metabolism - 1 Nov 2009
Raivio Taneli, Sidis Yisrael, Plummer Lacey, Chen Huaibin, Ma Jinghong, Mukherjee Abir, Jacobson-Dickman Elka, Quinton Richard, Van Vliet Guy, Lavoie Helene, Hughes Virginia A, Dwyer Andrew, Hayes Frances J, Xu Shuyun, Sparks Susan, Kaiser Ursula B, Mohammadi Moosa, Pitteloud Nelly
Abstract excerpt
CONTEXT: 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. AIMS: The objective of the study was to define the frequency of FGFR1 mutations in a large cohort of nIHH, delineate the spectrum of reproductive phenotypes, assess functionality of the FGFR1 mutant...
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