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Case Reports in Endocrinology
Volume 2012, Article ID 238364, 5 pages
Case Report

Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis

1Department of Medicine, Emory University School of Medicine, 101 Woodruff Circle NE, Atlanta, GA 30322, USA
2Division of Endocrinology, Metabolism and Lipids, Department of Medicine, School of Medicine and Atlanta VA Medical Center Emory University, Decatur, GA 30300, USA

Received 15 October 2011; Accepted 9 November 2011

Academic Editors: G. Aimaretti, M. A. Boyanov, and S. Simsek

Copyright © 2012 Zahi Mitri and Vin Tangpricha. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent with high bone mass found on bone mineral density reports. PHEX gene mutation analysis was negative. Patient was started on calcium and phosphorus replacement, and he clinically improved. This paper will review the different subtypes of osteopetrosis, and the evaluation of hypophosphatemia.