2023
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes
Shariq O, Abrantes V, Lu L, Tebben P, Foster T, Dy B, Lyden M, Young W, McKenzie T. Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes. Surgery 2023, 175: 8-16. PMID: 37891063, DOI: 10.1016/j.surg.2023.05.044.Peer-Reviewed Original ResearchConceptsMedian disease-free survivalDisease-free survivalPrimary hyperparathyroidismSurgical approachTruncated exon 2Total parathyroidectomyPostoperative outcomesExon 2Aggressive pNETsShorter median disease-free survivalHigh risk of recurrenceLong-term postoperative outcomesIncidence of postoperative hypoparathyroidismMultiple endocrine neoplasia type 1Incidence of permanent hypoparathyroidismPancreatic neuroendocrine tumorsAnalyzed baseline characteristicsRisk of recurrenceYounger median ageGermline pathogenic variantsHypoparathyroidism rateMEN1 genotypeMEN1 variantsPermanent hypoparathyroidismNeuroendocrine tumors
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