2024
Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D
Mohan S, Sheehan M, Tebben P, Wermers R. Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D. JCEM Case Reports 2024, 2: luae022. PMID: 38476635, PMCID: PMC10928506, DOI: 10.1210/jcemcr/luae022.Peer-Reviewed Original ResearchLow PTHTherapeutic optionsCalcium levelsNormalization of calcium levelsElevated serum calcium levelsSerum calcium levelsMechanism(s) of actionOral cinacalcetSymptomatic hypocalcemiaCinacalcet doseRecurrent nephrolithiasisUrine calciumRare causeGranulomatous diseaseCinacalcetHypercalcemiaFollow-upSymptomatic benefitGenetic testingBiallelic variantsGenetic mutationsMechanism(s)Mild decreasePTHMalignancy
2023
SAT257 Efficacy Of Oral Cinacalcet In Non-PTH Non-Malignant Hypercalcemia From Excess 1,25 Dihydroxyvitamin D
Mohan S, Sheehan M, Tebben P, Wermers R. SAT257 Efficacy Of Oral Cinacalcet In Non-PTH Non-Malignant Hypercalcemia From Excess 1,25 Dihydroxyvitamin D. Journal Of The Endocrine Society 2023, 7: bvad114.553. PMCID: PMC10554413, DOI: 10.1210/jendso/bvad114.553.Peer-Reviewed Original ResearchMale patientsFemale patientsCYP24A1 geneNon-malignantCalcium levelsElevated 1,25-dihydroxyvitamin DNormalization of calcium levelsDecreased intestinal calcium absorptionEstimated glomerular filtration rateFractional excretion of calciumCYP24A1 gene mutationsDiscontinuation of cinacalcetTreated with cinacalcetEnzyme 1-alpha-hydroxylaseYear of therapySerum calcium levelsHypercalcemia of malignancyIntestinal calcium absorptionMaintenance of normocalcemiaGlomerular filtration rateExcretion of calciumSerum calcium concentrationChronic kidney diseasePTH-related peptideOral cinacalcet
2021
Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions
Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney R, Tebben P, Jüppner H. Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e681-e687. PMID: 34477200, PMCID: PMC8899049, DOI: 10.1210/clinem/dgab660.Peer-Reviewed Original ResearchConceptsAutosomal dominant pseudohypoparathyroidism type IbSTX16 deletionPseudohypoparathyroidism type IbParathyroid hormoneYears of ageAD-PHP1BDisease-causing variantsFemale carriersMeasurement of parathyroid hormoneGNAS exon A/BPretreatment laboratory resultsElevated PTH levelsParathyroid hormone resistanceParathyroid hormone levelsSerum calcium levelsThyrotropin (TSHType IbExon A/BOvert hypocalcemiaPTH resistancePTH levelsTSH levelsCalcium abnormalitiesPrompt treatmentLoss of methylation