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CHUV


ABSTRACT: Organisation EGAO00000000781

PROVIDER: EGAO00000000781 | EGA |

REPOSITORIES: EGA

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Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin-releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (<i>FGFR1</i>) is the most frequently mutated gene in CHH and is implicated in GnRH neuron development and maintenance. We note that a CHH <i>FGFR1</i> mutation (p.L342S) decreases signaling of the metabolic regulator FGF21 by impairing the association of FGFR1 with β-Klotho (KLB), the obligate co  ...[more]

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