ea0062oc4 | Oral Communications | EU2019
de Mezquita Kirsty Mills
, Olesen Mie
, Brown Rebecca
, Sloman Melissa
, Thakker Rajesh
, Hannan Fadil
Case History: X-linked hypophosphataemia (XLH) manifests as rickets in infancy or childhood, and is caused by mutations of the phosphate-regulating neutral endopeptidase (PHEX) gene, which leads to excess production of the fibroblast growth factor-23 (FGF-23) hormone. We present a case illustrating that mutation of PHEX can also cause hypophosphataemia presenting in adulthood. The proband is a 56-year-old male, who was referred with persistent hypophosphataem...