J Bone Miner Res 2021 May 5. Epub 2021 May 5.
National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
J Bone Miner Res 2021 May 24. Epub 2021 May 24.
Yale University School of Medicine, New Haven, CT, USA.
Bone 2021 May 11;150:116004. Epub 2021 May 11.
Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Background: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare mosaic disorder of Gα activation. Fibroblast Growth Factor 23 (FGF23)-mediated hypophosphatemia is a feature of FD/MAS that has been associated with poor skeletal outcomes. Standard therapy includes oral phosphorus and vitamin D analogs; however, treatment is limited by potential adverse renal and gastrointestinal effects. Read More
J Bone Miner Res 2021 Apr 19;36(4):625-626. Epub 2021 Mar 19.
Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Bone Rep 2021 Jun 24;14:100744. Epub 2020 Dec 24.
Program for Metabolic Bone Disorders at Vanderbilt, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Vanderbilt University Medical Center, 8210 Medical Center East, 1215 21st Avenue South, Nashville, TN 37232-8148, United States of America.
Tumor-induced osteomalacia (TIO), caused by phosphaturic mesenchymal tumors (PMTs), is a rare paraneoplastic syndrome characterized by frequent bone fractures, bone pain, muscle weakness, and affected gait. These tumors typically secrete high levels of Fibroblastic Growth Factor 23 (FGF23), a hormone which acts on the kidney to cause hypophosphatemia, ultimately impairing bone mineralization. In this case report, we present a 41-year-old female with FGF23-mediated hypophosphatemia with a 26-year delay in TIO diagnosis and a concurrent misdiagnosis of X-linked hypophosphatemic rickets (XLH). Read More