title: Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.
abstract: Fibroblast growth factor (FGF) signaling is critical for a broad range of developmental processes. In 2003, Fibroblast growth factor receptor 1 (FGFR1) was discovered as a novel locus causing both forms of isolate GnRH Deficiency, Kallmann syndrome [KS with anosmia] and normosmic idiopathic hypogonadotropic hypogonadism [nIHH] eventually accounting for approximately 10% of gonadotropin-releasing hormone (GnRH) deficiency cases. Such cases are characterized by a broad spectrum of reproductive phenotypes from severe congenital forms of GnRH deficiency to reversal of HH. Additionally, the variable expressivity of both reproductive and non-reproductive phenotypes among patients and family members harboring the identical FGFR1 mutations has pointed to a more complex, oligogenic model for GnRH deficiency. Further, reversal of HH in patients carrying FGFR1 mutations suggests potential gene-environment interactions in human GnRH deficiency disorders.
authors.affiliation: Centre Hospitalier Universitaire Vaudois, Endocrine, Diabetes, & Metabolism Service, BH 19-701, Rue du Bugnon 46, 1011 Lausanne, Switzerland.
authors.forename: Hichem
authors.initials: H
authors.lastname: Miraoui
authors.forename: Andrew
authors.initials: A
authors.lastname: Dwyer
authors.forename: Nelly
authors.initials: N
authors.lastname: Pitteloud
mesh_terms: D005346:Fibroblast Growth Factors / Q000235:genetics* / Q000378:metabolism*; D059647:Gene-Environment Interaction; D006801:Humans; D009154:Mutation; D009490:Neurosecretory Systems / Q000378:metabolism / Q000502:physiology*; D010641:Phenotype; D012098:Reproduction / Q000235:genetics / Q000502:physiology*
chemical_list: D005346:Fibroblast Growth Factors