Endocrine Abstracts

X-linked hypophosphatemia is a rare inherited disorder, yet the most common among the inherited causes of rickets. It is caused by different mutations in the PHEX gene leading to an impaired regulation of fibroblast growth factor 23 (FGF 23) and renal phosphate wasting. Patients with XLH show multiple musculoskeletal complications which usually can lead to early diagnosis in childhood. Nevertheless XLH is a lifelong disease, with multisystemic manifestations, including entheso...