2025
Treatment of Extraosseous Giant Cell Tumor of Bone and Calcitriol-Mediated Hypercalcemia With Denosumab in Paget Disease
Magvanjav O, Bergwitz C. Treatment of Extraosseous Giant Cell Tumor of Bone and Calcitriol-Mediated Hypercalcemia With Denosumab in Paget Disease. JCEM Case Reports 2025, 3: luaf031. PMID: 40110572, PMCID: PMC11920620, DOI: 10.1210/jcemcr/luaf031.Peer-Reviewed Original ResearchBone-specific alkaline phosphataseGiant cell tumorCell tumorsPaget's diseaseCalcitriol-mediated hypercalcemiaOsteoclast-like giant cellsDose of denosumabTreated with bisphosphonatesReduced tumor sizeOne-time doseElevated calcitriolParathyroid autonomyPolyostotic PDBStromal mononuclear cellsPelvic massSymptomatic hypercalcemiaTumor regrowthTumor sizeParathyroid hormoneKidney injuryNormal calciumMononuclear cellsDenosumabHypercalcemiaLong-term management option
2017
CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations
Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. The Journal Of Steroid Biochemistry And Molecular Biology 2017, 173: 337-340. PMID: 28093352, DOI: 10.1016/j.jsbmb.2017.01.006.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismParathyroid hormoneActive vitamin D metaboliteVitamin D supplementationDietary calcium intakeIdiopathic infantile hypercalcemiaLikely disease-causing variantsVitamin D metabolitesVitamin D pathwayCalcium homeostatic systemCompound heterozygote mutationsFunction mutationsD supplementationSymptomatic hypercalcemiaCalcium intakeUnrecognized causeVitamin DCalcium metabolismD metabolitesInfantile hypercalcemiaDisease-causing variantsVariant mutationsLoss of functionActive metabolite
2001
Familial isolated parathyroid adenoma in a consanguineous family
Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. Familial isolated parathyroid adenoma in a consanguineous family. Journal Of Endocrinological Investigation 2001, 24: 349-355. PMID: 11407655, DOI: 10.1007/bf03343872.Peer-Reviewed Original ResearchConceptsPrimary hyperparathyroidismSecond-degree relativesParathyroid adenomaMultiple endocrine neoplasia 1Recessive mode of inheritanceLeft lower neckRecurrent parathyroid adenomaGood healthGenetic testingSigns or symptomsGerm-cell mutationsBilateral hearing lossPre-term childrenSternocleidomastoid muscleSymptomatic hypercalcemiaMode of inheritanceOncocytic differentiationParathyroid massGentamicin treatmentGerm cell mutationsUltrasound scanRare formLower neckSubsequent autotransplantationEndocrine studies
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