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
2023
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes
Shariq O, Abrantes V, Lu L, Tebben P, Foster T, Dy B, Lyden M, Young W, McKenzie T. Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes. Surgery 2023, 175: 8-16. PMID: 37891063, DOI: 10.1016/j.surg.2023.05.044.Peer-Reviewed Original ResearchConceptsMedian disease-free survivalDisease-free survivalPrimary hyperparathyroidismSurgical approachTruncated exon 2Total parathyroidectomyPostoperative outcomesExon 2Aggressive pNETsShorter median disease-free survivalHigh risk of recurrenceLong-term postoperative outcomesIncidence of postoperative hypoparathyroidismMultiple endocrine neoplasia type 1Incidence of permanent hypoparathyroidismPancreatic neuroendocrine tumorsAnalyzed baseline characteristicsRisk of recurrenceYounger median ageGermline pathogenic variantsHypoparathyroidism rateMEN1 genotypeMEN1 variantsPermanent hypoparathyroidismNeuroendocrine tumorsImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Pinto e Vairo F, Kemppainen J, Vitek C, Whalen D, Kolbert K, Sikkink K, Kroc S, Kruisselbrink T, Shupe G, Knudson A, Burke E, Loftus E, Bandel L, Prochnow C, Mulvihill L, Thomas B, Gable D, Graddy C, Garzon G, Ekpoh I, Porquera E, Fervenza F, Hogan M, El Ters M, Warrington K, Davis J, Koster M, Orandi A, Basiaga M, Vella A, Kumar S, Creo A, Lteif A, Pittock S, Tebben P, Abate E, Joshi A, Ristagno E, Patnaik M, Schimmenti L, Dhamija R, Sabrowsky S, Wierenga K, Keddis M, Samadder N, Presutti R, Robinson S, Stephens M, Roberts L, Faubion W, Driscoll S, Wong-Kisiel L, Selcen D, Flanagan E, Ramanan V, Jackson L, Mauermann M, Ortega V, Anderson S, Aoudia S, Klee E, McAllister T, Lazaridis K. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Journal Of Translational Medicine 2023, 21: 410. PMID: 37353797, PMCID: PMC10288779, DOI: 10.1186/s12967-023-04183-7.Peer-Reviewed Original ResearchConceptsMayo Clinic programGenetic counselorsGenetic testingImplementation of genomic medicineSubspecialty practiceGenetic counseling assistantsClinical programsUndiagnosed diseaseClinical service modelGenetic test resultsTertiary healthcare systemGenetic nursesMedical managementMulti-gene panelHealthcare providersSubspecialty providersTargeted genetic testingMedical geneticistsHealthcare systemImprove accessGenomic medicineProgram expansionGenetic counselingRare diseaseTest facilitator
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 cohortSyndromeMonthsOutcomesHypophosphatemia: A Practical Guide to Evaluation and Management
Tebben P. Hypophosphatemia: A Practical Guide to Evaluation and Management. Endocrine Practice 2022, 28: 1091-1099. PMID: 35940468, DOI: 10.1016/j.eprac.2022.07.005.Peer-Reviewed Original ResearchConceptsClinical manifestationsNormal phosphate homeostasisParathyroid hormoneFibroblast growth factorFunction of phosphateRange of symptomsCell membrane integrityEnzyme functionGrowth factorPhosphate balanceSkeletal mineralizationMembrane integrityChronic causesGastrointestinal tractPhosphate homeostasisDiverse rolesEnergy homeostasisHypophosphatemia
2021
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky I, Tebben P, Jüppner H. Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e1610-e1619. PMID: 34791361, PMCID: PMC8947795, DOI: 10.1210/clinem/dgab830.Peer-Reviewed Original ResearchConceptsIntracytoplasmic sperm injectionGNAS differentially methylated regionsIn vitro fertilizationLoss of methylationPHP1B patientsGNAS methylationPseudohypoparathyroidism type Ib (PHP1BMaternal GNAS methylation imprintsDifferentially methylated regionsStimulatory G protein alpha-subunitAutosomal dominant PHP1BParathyroid hormone resistancePseudohypoparathyroidism type IbProximal renal tubulesAbnormal GNAS methylationImpaired oocyte maturationOocyte-expressed genesGain of methylationSporadic PHP1BHormone resistanceSperm injectionPHP1BMale factorImprinting defectsGenetic defectsVariable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
Christensen S, Tebben P, Sas D, Creo A. Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature. Hormone Research In Paediatrics 2021, 94: 374-389. PMID: 34666334, DOI: 10.1159/000520299.Peer-Reviewed Original ResearchConceptsHereditary hypophosphatemic ricketsRenal symptomsPhosphate wastingHypophosphatemic ricketsVariable clinical presentationRenal phosphate wastingPhenotype-genotype correlationSLC34A3 mutationsUrine phosphateBone symptomsCase seriesMineralization defectRare conditionSLC34A3 variantsSerum phosphorusHHRHAccurate diagnosisUrinary stonesPatientsCombined boneHypercalciuriaLiterature reviewSymptomsSLC34A3Systematic literature reviewProgression 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 evaluationAssociation of vitamin D deficiency with COVID‐19 infection severity: Systematic review and meta‐analysis
Wang Z, Joshi A, Leopold K, Jackson S, Christensen S, Nayfeh T, Mohammed K, Creo A, Tebben P, Kumar S. Association of vitamin D deficiency with COVID‐19 infection severity: Systematic review and meta‐analysis. Clinical Endocrinology 2021, 96: 281-287. PMID: 34160843, PMCID: PMC8444883, DOI: 10.1111/cen.14540.Peer-Reviewed Original ResearchConceptsVitamin D deficiencyD deficiencyCOVID-19 infectionAssociation of vitamin D deficiencyAssociated with significantly higher mortalityIntensive care unit admissionVitamin D supplementationHospital admissionSeverity of COVID-19 infectionSeverity of coronavirus disease 2019Length of hospitalizationSignificantly higher mortalityAssociated with greater severityCOVID-19 infection severitySeverity of COVID-19D supplementationStudy geographic locationUnit admissionRate of hospital admissionsLonger hospitalSubgroup analysisObservational studyCoronavirus disease 2019Higher mortalityMeta-analysisThree 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 ClinicThe Utility of DXA Assessment at the Forearm, Proximal Femur, and Lateral Distal Femur, and Vertebral Fracture Assessment in the Pediatric Population: 2019 ISCD Official Position
Weber D, Boyce A, Gordon C, Högler W, Kecskemethy H, Misra M, Swolin-Eide D, Tebben P, Ward L, Wasserman H, Shuhart C, Zemel B. The Utility of DXA Assessment at the Forearm, Proximal Femur, and Lateral Distal Femur, and Vertebral Fracture Assessment in the Pediatric Population: 2019 ISCD Official Position. Journal Of Clinical Densitometry 2019, 22: 567-589. PMID: 31421951, PMCID: PMC7010480, DOI: 10.1016/j.jocd.2019.07.002.Peer-Reviewed Original ResearchConceptsDual-energy X-ray absorptiometryVertebral fracture assessmentGroup of childrenAssessment of skeletal healthDual-energy X-ray absorptiometry assessmentBone health assessmentTotal body less headSpine DXA scansLumbar spine DXA scansDual-energy X-ray absorptiometry scanLateral distal femurProximal femurClinical bone health assessmentFracture assessmentHealth assessmentX-ray absorptiometryDXA scansEvaluation of bone fragilityBone healthPediatric positionsSkeletal healthHealthPediatricPediatric populationChildrenPatterns 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