Insights into the Molecular and Hormonal Regulation of Complications of X-Linked Hypophosphatemia

X-linked hypophosphatemia (XLH) is characterized by mutations in the PHEX gene, leading to elevated serum levels of FGF23, decreased production 1,25 dihydroxyvitamin D3 (1,25D), and hypophosphatemia. Those affected with XLH manifest impaired growth skeletal dentoalveolar mineralization as well increased tendon–bone attachment site (enthesopathy), all which lead quality life. Many molecular murine studies have detailed role mineral ions hormones regulating complications XLH, including how they modulate plate maturation, bone structure, osteocyte-mediated matrix resorption canalicular organization, enthesopathy development. While these provided insight into underpinnings processes, current therapies available for do not fully prevent or treat complications. Therefore, further investigations are needed determine pathophysiology underlying XLH.