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Article

Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency

13 May 2010

Abstract excerpt

CONTEXT: FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively. Recently, missense mutations in FGF8, a key ligand for fibroblast growth factor receptor (FGFR) 1 in the ontogenesis of GnRH, were identified in IHH patients, thus establishing FGF8 as a novel locus for human GnRH deficiency. OBJECTIVE: Our...

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PMID: 20463092
DOI: 10.1210/jc.2010-0176

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