Endocrine Abstracts

Background: X-Linked Hypophosphataemia (XLH) is a rare, progressive, hereditary phosphate wasting disorder characterised by a pathological increase in fibroblast growth factor 23 concentration/activity. Despite XLH being increasingly recognised as a chronic progressive disease, there are few data documenting its natural history or impact of treatment. The International XLH Registry will collect data to characterise burden of disease, disease progression and long-term outcomes....

X-linked hypophosphatemia (XLH) is a rare genetic disease due to inactivation of the PHEX gene, which results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23); the latter induces renal phosphate wasting and hypophosphatemia. Skeletal and dental anomalies and recently described increase in cardiovascular risk are typical clinical findings. We retrospectively evaluated 58 adult patients with XLH from 9 Italian tertiary centres [34 females, 24...

Background: Primary hyperparathyroidism (PHPT) is the third most common endocrine disease and the most frequent cause of hypercalcemia in outpatients with an estimated incidence of 20/100 000/year and prevalence in the general population of 0.1%–0.4%. Parathyroidectomy (PTX) is the only treatment that can achieve PHPT cure but a few medications can be used to control calcium levels, bone and kidney impairment.Aims: 1) To assess costs associated with...