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