2012
Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy
Tebben P, Milliner D, Horst R, Harris P, Singh R, Wu Y, Foreman J, Chelminski P, Kumar R. Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e423-e427. PMID: 22337913, PMCID: PMC3319216, DOI: 10.1210/jc.2011-1935.Peer-Reviewed Original ResearchConceptsSplice junction mutationElevated serum 1,25-dihydroxyvitamin DSerum 1,25-dihydroxyvitamin DAutosomal dominant transmissionCYP24A1 geneIntermittent hypercalcemiaUrinary calciumAnalysis of family membersDominant transmissionNormal rangeD concentrationsElevated 1,25-dihydroxyvitamin DReduced bone mineral densitySerum 24,25-dihydroxyvitamin DCYP24A1 gene mutationsElevated urinary calciumReduced urinary calciumBone mineral densityGenetic analysisGenetic basisElevated 1,25-dihydroxyvitamin D concentrationsStatistically significant reductionDecreased PTH concentrationsFamily membersGenes
2006
Oncogenic Osteomalacia: Localization of Underlying Peripheral Mesenchymal Tumors with Use of Tc 99m Sestamibi Scintigraphy
Hodgson S, Clarke B, Tebben P, Mullan B, Cooney W, Shives T. Oncogenic Osteomalacia: Localization of Underlying Peripheral Mesenchymal Tumors with Use of Tc 99m Sestamibi Scintigraphy. Endocrine Practice 2006, 12: 35-42. PMID: 16524861, DOI: 10.4158/ep.12.1.35.Peer-Reviewed Original ResearchConceptsTc-99m sestamibi scanM sestamibi scanMesenchymal tumorsTc-99m sestamibi scintigraphyM sestamibi scintigraphyCost-effective initial strategyOncogenic osteomalaciaTherapeutic failureComplete resolutionCase reportD concentrationsNeoplasmsTumorTissue compartmentsOsteomalaciaAlternative localization technique