2024
An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk
Salama M, Tebben P, Al Nofal A. An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk. Journal Of Pediatric Endocrinology And Metabolism 2024, 37: 375-379. PMID: 38414167, DOI: 10.1515/jpem-2023-0494.Peer-Reviewed Case Reports and Technical NotesConceptsParathyroid hormoneCreatinine ratioUrine calcium-to-creatinine ratioHistory of biliary atresiaCalcium to creatinine ratioMonths prior to presentationAlmond milkCow's milk allergyMilk consumptionMonths of ageSevere hypercalcemiaBiliary atresiaAlternative to cow milkCow's milkD levelsLiver transplantationPlant-based milk alternativesCase reportInitial managementIntravenous fluidsMilk allergyHypercalcemiaMineral contentCalcium concentrationHypophosphatemia
2022
Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases
Szabo Yamashita T, Gudmundsdottir H, Foster T, Lyden M, Dy B, Tebben P, McKenzie T. Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases. The American Journal Of Surgery 2022, 225: 699-702. PMID: 36270819, DOI: 10.1016/j.amjsurg.2022.10.018.Peer-Reviewed Original ResearchConceptsPrimary hyperparathyroidismFamilial casesSingle-center retrospective reviewSporadic casesTime to recurrenceSingle gland diseaseRate of recurrenceLong-term outcomesApparent sporadic casesSporadic groupRetrospective reviewSurgical outcomesMEN-1Pediatric patientsGland diseaseFamilial syndromesSurgical pathologyFollow-upGenetic testingPatientsRecurrenceFamily cohortSyndromeMonthsOutcomes
2021
Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions
Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney R, Tebben P, Jüppner H. Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e681-e687. PMID: 34477200, PMCID: PMC8899049, DOI: 10.1210/clinem/dgab660.Peer-Reviewed Original ResearchConceptsAutosomal dominant pseudohypoparathyroidism type IbSTX16 deletionPseudohypoparathyroidism type IbParathyroid hormoneYears of ageAD-PHP1BDisease-causing variantsFemale carriersMeasurement of parathyroid hormoneGNAS exon A/BPretreatment laboratory resultsElevated PTH levelsParathyroid hormone resistanceParathyroid hormone levelsSerum calcium levelsThyrotropin (TSHType IbExon A/BOvert hypocalcemiaPTH resistancePTH levelsTSH levelsCalcium abnormalitiesPrompt treatmentLoss of methylationSkimmed breast milk for treatment of hypertriglyceridemia in an infant with congenital nephrotic syndrome
Dahl A, Armellino A, Tran C, Tebben P. Skimmed breast milk for treatment of hypertriglyceridemia in an infant with congenital nephrotic syndrome. Nutrition In Clinical Practice 2021, 37: 383-387. PMID: 34486165, DOI: 10.1002/ncp.10759.Peer-Reviewed Case Reports and Technical NotesConceptsCongenital nephrotic syndromeSkimmed breast milkMaternal breast milkBreast milkTriglyceride concentrationsSevere hypertriglyceridemiaNephrotic syndromeTreatment of severe hypertriglyceridemiaLower extremity edemaNephrotic-range proteinuriaLow-fat formulaDeep venous thrombosisTreatment of hypertriglyceridemiaTreatment of dyslipidemiaBreast milk supplyElevation of serum cholesterolExtremity edemaNeonatal periodMedium-chain triglyceride oilNPHS1 geneTherapeutic optionsVenous thrombosisPathogenic variantsWeeks of ageLaboratory evaluationThree Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
Gupta N, Gregory S, Deyle D, Tebben P. Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant. Journal Of Clinical Research In Pediatric Endocrinology 2021, 0: 0-0. PMID: 32519829, PMCID: PMC8186326, DOI: 10.4274/jcrpe.galenos.2020.2020.0012.Peer-Reviewed Original ResearchConceptsNontraumatic fracturesOsteogenesis imperfectaBisphosphonate therapyPhenotype of OIExtra-skeletal manifestationsIntravenous bisphosphonate therapyProgressive bone deformitiesBone deformitiesLong bone fracturesCOL1A1 variantMonth of birthPatient 2Fracture ratesPatient's kindredBone fracturesPatientsAffected membersUnique phenotypeMonthsTherapyImperfectaKindredVariant databasesPhenotypeAgeBasal Ganglia Calcification Is Associated With Local and Systemic Metabolic Mechanisms in Adult Hypoparathyroidism
Zavatta G, Tebben P, McCollough C, Yu L, Vrieze T, Clarke B. Basal Ganglia Calcification Is Associated With Local and Systemic Metabolic Mechanisms in Adult Hypoparathyroidism. The Journal Of Clinical Endocrinology & Metabolism 2021, 106: 1900-1917. PMID: 33788935, DOI: 10.1210/clinem/dgab162.Peer-Reviewed Original ResearchConceptsLow serum calciumBasal ganglia calcificationSerum calciumChronic hypoparathyroidismNonsurgical patientsSerum phosphorusAssociated with lower serum calciumComputed tomographyDecreased serum parathyroid hormoneRetrospective review of medical recordsReview of medical recordsSerum parathyroid hormoneAssociated with soft tissue calcificationSex-matched controlsAssociated with greater volumeDuration of treatmentCase-control studyDistribution of calcificationSoft tissue calcificationIncreased serum phosphorusCalcium/phosphate ratioCT headRetrospective reviewParathyroid hormoneImaging findings
2020
Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study
Hawkes C, Roy S, Dekelbab B, Frazier B, Grover M, Haidet J, Listman J, Madsen S, Roan M, Rodd C, Sopher A, Tebben P, Levine M. Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study. The Journal Of Clinical Endocrinology & Metabolism 2020, 106: e485-e495. PMID: 33124662, PMCID: PMC7823241, DOI: 10.1210/clinem/dgaa759.Peer-Reviewed Original ResearchConceptsAcute hypercalcemiaKetogenic dietLevels of 1,25-dihydroxyvitamin DLow levels of parathyroid hormoneLevels of parathyroid hormoneLow alkaline phosphatase levelMulticenter case seriesImpaired renal functionCohort of patientsResolution of hypercalcemiaReduced osteoblast activityResponse to treatmentAlkaline phosphatase levelsImpaired bone formationRenal impairmentClinical presentationRenal functionParathyroid hormoneCase seriesMulticenter studyClinical characteristicsBone healthHypercalcemiaSkeletal demineralizationFollow-upGrowth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
Muthusamy K, Hanna C, Johnson D, Cramer C, Tebben P, Libi S, Poling G, Lanpher B, Morava E, Schimmenti L. Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. American Journal Of Medical Genetics Part A 2020, 185: 261-266. PMID: 33098377, DOI: 10.1002/ajmg.a.61942.Peer-Reviewed Case Reports and Technical NotesConceptsGrowth hormone deficiencyHormone deficiencyEYA1 genePituitary abnormalitiesInitiation of growth hormone therapyHeterozygous pathogenic variationsRare autosomal dominant conditionPituitary hormone deficiencyGrowth hormone therapyBranchial arch malformationsPathogenic variationAutosomal dominant conditionMagnetic resonance imagingAbnormal sellaPituitary imagingRenal anomaliesHormone therapyEar abnormalitiesArch malformationsFunction surveillanceClinically diagnosed individualsClinical evidencePituitary developmentPituitary glandEYA1Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study
Qureshi M, Patterson M, Clark V, Johnson J, Moutvic M, Driscoll S, Kemppainen J, Huston J, Anderson J, Badley A, Tebben P, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette J, Gavrilova R. Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study. Journal Of Inherited Metabolic Disease 2020, 44: 502-514. PMID: 32677106, DOI: 10.1002/jimd.12285.Peer-Reviewed Original ResearchConceptsCardiac magnetic resonance imagingMagnetic resonance imagingOpen-labelCardiac endpointsLeft ventricular (LV) structureFriedreich Ataxia Rating ScaleImprovement of cardiac functionLV mass indexSingle-center trialFriedreich's ataxiaCompared to baselineAtaxia Rating ScaleNonstatistically significant improvementPhase IIFA diagnosisStatistically significant improvementNeurological outcomeSignificant improvementPediatric subjectsAdverse eventsProspective studyCardiac functionHeart failureCardiac structureEvaluate safetyCongenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD
Muthusamy K, Macke E, Klee E, Tebben P, Hand J, Hasadsri L, Marcou C, Schimmenti L. Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American Journal Of Medical Genetics Part A 2020, 182: 2442-2449. PMID: 32815268, DOI: 10.1002/ajmg.a.61792.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdolescentAdultAngelman SyndromeChildChild, PreschoolChromosomes, Human, Pair 15Congenital AbnormalitiesFemaleGenes, RecessiveGenomic ImprintingHumansIchthyosisIn Situ Hybridization, FluorescenceInfantInfant, NewbornMaternal InheritancePrader-Willi SyndromeSphingosine N-AcyltransferaseUniparental DisomyYoung AdultConceptsPrader-Willi syndromeAutosomal recessive congenital ichthyosisAutosomal recessive conditionPrader-Willi syndrome/Angelman syndromeCeramide synthase 3Congenital ichthyosisUniparental disomyPathogenic variantsPaternal 15q11-q13 deletionComplex chromosomal rearrangementsCase of autosomal recessive congenital ichthyosisNovel pathogenic variantsDiagnosis of Prader-Willi syndromeRecessive conditionRecessive inherited diseaseAutosomal recessive inherited diseaseChromosomal rearrangementsGenetic mechanismsImprinting defectsMaternal UPD15Prader-WilliClinical courseUPD15Case reportClinical phenotypeLong-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation
Eswarakumar AS, S. N, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO. Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. Clinical Pediatrics 2020, 59: 1080-1085. PMID: 32666808, DOI: 10.1177/0009922820941097.Peer-Reviewed Original ResearchConceptsElemental formula useBone diseaseFormula useHypophosphatemic bone diseaseTerm Follow-upLong-term outcomesSerum phosphorus concentrationSerum alkaline phosphatase activitySerum alkaline phosphataseSeverity/durationTime of correctionChart reviewSerum phosphorusDisease AssociatedFollow-upPhosphate supplementationExtent of recoveryDiseaseDiagnosisFormula changesRadiology reportsSupplementationAlkaline phosphataseAlkaline phosphatase activityReport
2019
Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
Wadams H, Gupta N, Novotny P, Tebben P. Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic. Journal Of Pediatric Endocrinology And Metabolism 2019, 33: 139-145. PMID: 31811804, DOI: 10.1515/jpem-2019-0269.Peer-Reviewed Original ResearchConceptsOptic nerve hypoplasiaPituitary hormone deficiencyThyroid-stimulating hormoneMagnetic resonance imagingMidline abnormalitiesAdrenocorticotropic hormoneHormone deficiencyAntidiuretic hormoneDiagnosis of optic nerve hypoplasiaPresence of optic nerve hypoplasiaRetrospective chart review of patientsThyroid-stimulating hormone deficiencyGrowth hormoneChart review of patientsDiagnosis of GHPituitary hormone functionReview of patientsRetrospective chart reviewYears of ageAge 3 yearsMonths of ageNeonatal periodMedian ageFollow-upMayo ClinicPatterns of amiodarone-induced thyroid dysfunction in infants and children
Creo A, Anderson H, Cannon B, Lteif A, Kumar S, Tebben P, Iqbal A, Ramakrishna A, Pittock S. Patterns of amiodarone-induced thyroid dysfunction in infants and children. Heart Rhythm 2019, 16: 1436-1442. PMID: 30904484, DOI: 10.1016/j.hrthm.2019.03.015.Peer-Reviewed Original ResearchConceptsAmiodarone-induced thyroid dysfunctionThyroid function testsThyroid-stimulating hormoneThyroid dysfunctionPediatric patientsTSH valuesThyroid-stimulating hormone elevationHeart Rhythm Society guidelinesThyroid-stimulating hormone valuesDegree of TSH elevationPeak TSH valueBrain developmentOptimal screening frequencyType of heart diseaseLong-term groupAmiodarone therapyTSH elevationInotropic supportUntreated hypothyroidismHypothyroid childrenAmiodarone initiationRetrospective cohortSociety guidelinesAmiodaroneYoung children
2018
Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula
Creo A, Epp L, Buchholtz J, Tebben P. Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula. Hormone Research In Paediatrics 2018, 90: 291-298. PMID: 30497080, DOI: 10.1159/000494726.Peer-Reviewed Original ResearchConceptsMetabolic bone diseasePrevalence of metabolic bone diseaseEvidence of bone diseaseRadiographic evidence of bone diseaseSemi-elemental formulaBone diseaseRadiographic evidenceTube-fed childrenAmino acid-based formulaRetrospective cohortInstitutional databaseRadiographic abnormalitiesReview periodMulticenter surveyElemental formulaNeocateSuspected casesEstimated prevalenceMild subclinical hypothyroidism is associated with paediatric dyslipidaemia
Dahl A, Iqbal A, Lteif A, Pittock S, Tebben P, Kumar S. Mild subclinical hypothyroidism is associated with paediatric dyslipidaemia. Clinical Endocrinology 2018, 89: 330-335. PMID: 29846957, DOI: 10.1111/cen.13752.Peer-Reviewed Original ResearchConceptsMild subclinical hypothyroidismElevated non-HDL cholesterolSubclinical hypothyroidismEuthyroid childrenElevated total cholesterolAssociated with higher ratesNon-HDL cholesterolTotal cholesterolLipid profilePresence of thyroid autoimmunityRandomized placebo-controlled studyNon-HDL cholesterol levelsAssociated with total cholesterolPlacebo-controlled studyMeasurement of TSHCompare lipid profilesTSH levelsThyroid autoimmunityHigher ratesFree thyroxineCardiometabolic consequencesOdds ratioControlled studiesCholesterol levelsHypothyroidism
2017
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
Sakka S, Gafni R, Davies J, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W. Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2017, 102: 4163-4172. PMID: 28938420, PMCID: PMC5673271, DOI: 10.1210/jc.2017-01102.Peer-Reviewed Original ResearchConceptsHajdu-Cheney syndromeIncreased bone resorptionBP therapyNOTCH2 mutationsLumbar spine bone mineral densityBone resorptionIncreased heterogeneity of mineralizationResponse to bisphosphonate treatmentLumbar spine bone densitySpine bone mineral densityDual-energy X-ray absorptiometryTransiliac bone biopsy specimensQuantitative computed tomography resultsBone histomorphometric characteristicsSpine bone densityPeripheral quantitative computed tomography resultsCortical thicknessResponse to bisphosphonatesX-ray absorptiometryBone mineral densityPeripheral quantitative computed tomographyBone biopsy specimensResponse to BPComputed tomography resultsQuantitative computed tomographyUnexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
Ballesteros L, S. N, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.Peer-Reviewed Original ResearchConceptsElemental formula useFormula useSkeletal diseaseRetrospective chart reviewInadequate dietary intakeCertain clinical settingsFormula productsEffect of treatmentSevere malabsorptionChart reviewSevere hypocalcemiaClinical featuresClinical profileRenal excretionDietary intakeCommon findingMineral metabolismBone diseaseHypophosphatemiaPhosphate supplementationSkeletal radiographsCareful monitoringComplex illnessRenal conservationClinical setting
2016
Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect
O’Keeffe D, Tebben P, Kumar R, Singh R, Wu Y, Wermers R. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect. Osteoporosis International 2016, 27: 3121-3125. PMID: 27129455, DOI: 10.1007/s00198-016-3615-6.Peer-Reviewed Original ResearchConceptsMonoallelic mutationsGene dose effectCYP24A1 mutationsCYP24A1 geneBiallelic mutationsBiochemical phenotypeDisease manifestationsElevated serum 1,25(OH)2DBone turnover markersMutations of CYP24A1Dose effectCompound heterozygous mutationsVitamin D metabolitesLow PTH concentrationsSerum 1,25(OH)2DUrine calciumResultsThe probandTurnover markersUrinary calciumHeterozygous mutationsPTH concentrationsD metabolitesSequence informationIntroductionThe objectiveMedical history
2014
70-Year-Old Woman With Buttock Pain and Hypercalcemia
James H, Griebeler M, Tebben P. 70-Year-Old Woman With Buttock Pain and Hypercalcemia. Mayo Clinic Proceedings 2014, 89: 1313-1317. PMID: 25192617, DOI: 10.1016/j.mayocp.2013.10.033.Peer-Reviewed Case Reports and Technical Notes
2013
Pediatric Endocrine Surgery: A 20-Year Experience at the Mayo Clinic
Kundel A, Thompson G, Richards M, Qiu L, Cai Y, Schwenk F, Lteif A, Pittock S, Kumar S, Tebben P, Hay I, Grant C. Pediatric Endocrine Surgery: A 20-Year Experience at the Mayo Clinic. The Journal Of Clinical Endocrinology & Metabolism 2013, 99: 399-406. PMID: 24423286, DOI: 10.1210/jc.2013-2617.Peer-Reviewed Original ResearchConceptsNeck dissectionAdrenocortical carcinomaMayo ClinicCases of permanent hypoparathyroidismHigh-volume endocrine surgeonsSuccinate dehydrogenase subunit B mutationLateral neck dissectionCongenital adrenal hyperplasiaAge of patientsHigh-volume surgeonsSix-month follow-upMultiglandular diseaseRecurrent hyperparathyroidismAdrenal hyperplasiaPermanent hypoparathyroidismUnilateral adrenalectomyEndocrine proceduresPrimary hyperparathyroidismCushing's syndromeThyroid proceduresDistal pancreatectomyPancreatic proceduresParaganglioma patientsTertiary hyperparathyroidismComplication rate