2020
A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH
Majumdar SK, Jacob T, Bale A, Bailey A, Kwon J, Hughes T, Barbieri AL, Laskin W, Cohen P, Carling TJE. A Novel Variant in the Calcium‐Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low‐to‐Normal PTH. Case Reports In Endocrinology 2020, 2020: 8752610. PMID: 33062349, PMCID: PMC7555459, DOI: 10.1155/2020/8752610.Peer-Reviewed Case Reports and Technical NotesFamilial hypocalciuric hypercalcemiaLow urinary calcium excretionUrinary calcium excretionCalcium excretionSerum calciumHypocalciuric hypercalcemiaCalcium-sensing receptor geneElevated set pointOsteitis fibrosa cysticaNovel heterozygous variantElevated calcitriolParathyroid histologyIntact PTHMild hypercalcemiaSubtotal parathyroidectomyFibrosa cysticaPrimary hyperparathyroidismMild elevationNormal PTHClinical manifestationsNovel variantsBony findingsBony lesionsCASR geneParathyroid glands
2019
A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man
Madhavan P, Van Do TH, Bale A, Majumdar S. A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man. AACE Clinical Case Reports 2019, 5: e226-e229. PMID: 31967040, PMCID: PMC6873832, DOI: 10.4158/accr-2018-0236.Peer-Reviewed Case Reports and Technical NotesFamilial hypocalciuric hypercalcemiaCalcium-sensing receptorHypocalciuric hypercalcemiaParathyroid growthLow urinary calcium excretionLong-term clinical followEvaluation of hypercalcemiaEvidence of adenomaElevated serum calciumUrinary calcium excretionMultiple endocrine neoplasiaAltered set pointCalcium excretionPrimary hyperparathyroidismClinical followSerum calciumClinical findingsSignificant hypercalcemiaSurgical interventionTomography scanEndocrine neoplasiaFamily historyHypercalcemiaBipolar disorderCalcium homeostasis
2012
MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk?
Shifrin A, Bale A, Dykas D, Fay A, Belitsis K, Fomin S, Lann D, Villanueva R, Zheng M, Govil S, Erler B, Matulewicz T, Topilow A, Krasna M, Vernick J. MEN1 gene mutations with different phenotypic presentations in two families: Is it a time to grade MEN1 mutations as high-risk and low-risk? Journal Of Clinical Oncology 2012, 30: 1540-1540. DOI: 10.1200/jco.2012.30.15_suppl.1540.Peer-Reviewed Original ResearchPancreatic endocrine tumorsMEN1 gene mutationsPrimary hyperparathyroidismFamilial Isolated HyperparathyroidismGenotype-phenotype correlationGene mutationsPhenotypic presentationDifferent phenotypic presentationsExon 7 mutationsMalignant gastrinomaThymic carcinomaTotal pancreatectomySurgical treatmentEndocrine tumorsPituitary adenomasMEN1 syndromeSyndrome resultsClinical phenotypeAge 32Grading systemMEN1 mutationsEarly onsetDiagnostic testsAge 79Codon 103