ESPE Abstracts

ESPE Abstracts

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hrp0084fc14.1 | Puberty | ESPE2015

KLB, Encoding the Co-receptor for FGF21, is Mutated in Congenital Hypogonadotropic Hypogonadism

Xu Cheng , Miraoui Hichem , Somm Emmanuel , Kinnunen Tarja , Dwyer Andrew , Preitner Nadia , Sykiotis Gerasimos , Santini Sara , Quinton Richard , Plummer Lacey , Crowley William , Hauschild Michael , Phan-Hug Franziska , Sidis Yisrael , Mohammadi Moosa , Messina Andrea , Pitteloud Nelly

Background: The hepatokine FGF21 signals through a dual receptor complex consisting of FGFR1c and the obligatory co-receptor β-Klotho to regulate glucose and lipid metabolism. Interestingly, female mice with Fgf21 transgenic overexpression are not only resistant to high-fat diet induced obesity but also present with hypogonadotropic hypogonadism (HH) and infertility. Loss-of-function (LOF) mutations in FGFR1 are a frequent cause of congenital HH (CHH). W...
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ESPE Abstracts

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