hrp0095fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2022
Berkenou Jugurtha
, Boros Emese
, Amouroux Cyril
, Bacchetta Justine
, Briot Karine
, Edouard Thomas
, Gueorgieva Iva
, Girerd Barbara
, Kamenicky Peter
, Lecoq Anne-Lise
, Marquant Emeline
, Mignot Brigitte
, Porquet Bordes Valérie
, Salles Jean-Pierre
, Zhukouskaya Volha
, Linglart Agnès
, Rothenbuhler Anya
Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...