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
2019
High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats
Niu A, Carpenter TO, Grams JM, Bozorgmehri S, Tommasini SM, Schafer AL, Canales BK. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats. Bone 2019, 127: 172-180. PMID: 31226531, PMCID: PMC6708762, DOI: 10.1016/j.bone.2019.06.015.Peer-Reviewed Original ResearchConceptsCalcium/creatinine ratioVitamin D supplementationSecondary hyperparathyroidismBone lossD supplementationGastric bypassGut hormonesRYGB groupParathyroid hormoneFracture riskFemale ratsUrine calcium/creatinine ratioBone volumeUrinary calcium/creatinine ratioHigh-dose vitamin D supplementationAdequate vitamin D supplementationC-terminal telopeptide (CTX) levelsHigher serum parathyroid hormoneIU vitamin D supplementationIU vitamin D/Bone phenotypeDose vitamin D supplementationResultant secondary hyperparathyroidismVitamin D/Serum parathyroid hormone
2017
Rickets
Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nature Reviews Disease Primers 2017, 3: 17101. PMID: 29265106, DOI: 10.1038/nrdp.2017.101.Peer-Reviewed Original ResearchConceptsVitamin D metabolismNutritional ricketsD metabolismVitamin DFibroblast growth factor 23 productionAbnormal serum calciumActivated vitamin DOral phosphate supplementationVitamin D supplementationRenal phosphate handlingVitamin D metabolitesAge of onsetDarker skin typesD supplementationFGF23 antibodyClinical presentationSerum calciumPhysical examinationD metabolitesMedical historyPhosphate handlingBone diseasePhosphopenic ricketsPhosphate supplementationConventional treatmentCYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations
Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. The Journal Of Steroid Biochemistry And Molecular Biology 2017, 173: 337-340. PMID: 28093352, DOI: 10.1016/j.jsbmb.2017.01.006.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismParathyroid hormoneActive vitamin D metaboliteVitamin D supplementationDietary calcium intakeIdiopathic infantile hypercalcemiaLikely disease-causing variantsVitamin D metabolitesVitamin D pathwayCalcium homeostatic systemCompound heterozygote mutationsFunction mutationsD supplementationSymptomatic hypercalcemiaCalcium intakeUnrecognized causeVitamin DCalcium metabolismD metabolitesInfantile hypercalcemiaDisease-causing variantsVariant mutationsLoss of functionActive metabolite
2012
Effects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infants
Abrams SA, Hawthorne KM, Rogers SP, Hicks PD, Carpenter TO. Effects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infants. BMC Pediatrics 2012, 12: 6. PMID: 22248486, PMCID: PMC3271033, DOI: 10.1186/1471-2431-12-6.Peer-Reviewed Original ResearchConceptsBone mineral contentBone mineral densityVitamin D supplementationD supplementationVitamin DHispanic infantsDaily vitamin D intakeCaucasian infantsIU/dayVitamin D intakeVitamin D3 supplementationVitamin D statusMonths of lifeNon-Hispanic CaucasiansD intakeD statusD3 supplementationSupplementation interventionsBone healthCord serumMineral densityInfantsFirst monthFirst weekBone mineralization
2003
Nutritional Rickets with Normal Circulating 25-Hydroxyvitamin D: A Call for Reexamining the Role of Dietary Calcium Intake in North American Infants
DeLucia MC, Mitnick ME, Carpenter TO. Nutritional Rickets with Normal Circulating 25-Hydroxyvitamin D: A Call for Reexamining the Role of Dietary Calcium Intake in North American Infants. The Journal Of Clinical Endocrinology & Metabolism 2003, 88: 3539-3545. PMID: 12915633, DOI: 10.1210/jc.2002-021935.Peer-Reviewed Original ResearchConceptsDietary calcium intakeNutritional ricketsCalcium intakeNorth American infantsAmerican infantsLow dietary calcium intakeOptimal dietary practicesVitamin D supplementationVitamin D deficiencyVitamin D therapyGreater New HavenD supplementationRachitic abnormalitiesD deficiencyD therapyDevelopment of diseaseVitamin DMean ageRepresentative case historiesBiochemical resolutionDietary practicesRicketsContributory roleMiddle Eastern descentInfants