2020
SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome
Cruz-Aviles L, Bale A, Carpenter T. SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome. Journal Of The Endocrine Society 2020, 4: sat-065. PMCID: PMC7208832, DOI: 10.1210/jendso/bvaa046.1845.Peer-Reviewed Original ResearchBone density Z-scorePg/Abnormal calcium levelsLeft hip painSmall right kidneyVitamin D supplementationRemoval of hardwareSensorineural hearing lossBilateral hip dysplasiaPre-op evaluationCentral nervous systemCapital femoral epiphysisTotal hip replacementGATA3 gene mutationWhole-exome sequencingFamily membersD supplementationOral calciumYo maleGastroesophageal refluxHip painChvostek's signEndocrine evaluationRenal diseaseAvascular necrosis
2017
Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia
Patel N, Carpenter T, Genel M. Single Dose Of Bisphosphonate To Treat Infantile Hypercalcemia. AACE Clinical Case Reports 2017, 3: e246-e250. DOI: 10.4158/ep161536.cr.Peer-Reviewed Original ResearchSubcutaneous fat necrosisSingle doseSevere hypercalcemiaDihydroxyvitamin DParathyroid hormonePTH parathyroid hormoneLife-threatening complicationsTreatment of hypercalcemiaLow calcium dietWeeks of lifePosterior upper armPg/mLAggressive hydrationTerm neonatesCalcium dietConfluent plaquesRadiologic findingsFat necrosisTreatment courseTherapeutic coolingSubsequent hypercalcemiaHypercalcemiaInfantile hypercalcemiaCalcium levelsPg/