Endocrine Abstracts

Introduction: Hypophosphataemic rickets (HR) is a rare genetic disorder characterized by poor growth, short desproporcionate stature and lower limb anomalies. Clinical manifestations usually appear before 1 year of age, this entity is characterised by osseus hypomineralisation, secondary to the increased expression of phosphatonins, especially FGF23, which acts in the sodium and phosphate co-transporters of the proximal convoluted tubule, inducing phosphaturia. HR exhibits AD,...