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Endocrines, Volume 4, Issue 1
March 2023 - 19 articles
Cover Story: X-linked hypophosphatemia (XLH) is due to mutations in PHEX, leading to high serum levels of FGF23, reduced active vitamin D production, and hypophosphatemia. Individuals with XLH have impaired growth and skeletal mineralization and develop enthesopathy, affecting their quality of life. Molecular and murine studies reported the critical role of phosphate in regulating growth plate maturation and the interplay of phosphate, vitamin D, and FGF23 in modulating skeletal mineralization and structure, osteocyte-mediated bone remodeling, and enthesopathy development. Available XLH therapies that improve mineral ion and hormone homeostasis do not fully prevent these complications; thus, further studies are needed to elucidate the molecular mechanisms underlying these complications. View this paper
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Endocrines - ISSN 2673-396X