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
Variable 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 review24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders
Azer S, Vaughan L, Tebben P, Sas D. 24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders. Journal Of The Endocrine Society 2021, 5: bvab119. PMID: 34337279, PMCID: PMC8317629, DOI: 10.1210/jendso/bvab119.Peer-Reviewed Original ResearchPositive family historyUrinary calcium:creatinine ratioFamily historyCalcium:creatinine ratioLumbar spine Z-scoreClinical characteristics of patientsRetrospectively reviewed laboratoryIdentified 9 patientsSpine Z-scoreVitamin D toxicityFisher's exact testCharacteristics of patientsLoss-of-function variantsWilcoxon rank sum testRank sum testSerum calciumClinical characteristicsLaboratory findingsCreatinine ratioInactive metabolitesExact testMayo ClinicSymptom onsetGene variantsPatientsThree 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 databasesPhenotypeAgeHigh Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency
Hanna C, Potretzke T, Cogal A, Mkhaimer Y, Tebben P, Torres V, Lieske J, Harris P, Sas D, Milliner D, Chebib F. High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency. Kidney International Reports 2021, 6: 1895-1903. PMID: 34307984, PMCID: PMC8258502, DOI: 10.1016/j.ekir.2021.04.030.Peer-Reviewed Original ResearchCYP24A1 deficiencyPathogenic variantsMedian ageKidney cystsKidney diseaseAge- and sex-matched control populationRetrospective analysis of patientsSex-matched control populationAnalysis of patientsLoss-of-function variantsVitamin D metabolismChronic kidney diseaseSuspected pathogenic variantsCystic kidney diseaseRare hereditary diseasesStone riskRetrospective analysisD metabolismMedian numberFamily historyCYP24A1Genetic confirmationPatientsHighest prevalenceHereditary disease
2016
Primary Hyperparathyroidism in Children and Adolescents
Lo H, Tebben P. Primary Hyperparathyroidism in Children and Adolescents. 2016, 117-128. DOI: 10.1007/978-3-319-25880-5_14.ChaptersPrimary hyperparathyroidismMultiple-gland diseaseSporadic primary hyperparathyroidismDegree of hypercalcemiaAssociated with greater morbidityEnd-organ damageTime of diagnosisHigh-volume surgeonsParathyroid hormone concentrationsTarget organ sensitivityPediatric patientsRare conditionYounger patientsGreater morbidityEndocrine surgeryEndocrine disordersFamilial diseaseAffected organsHormone concentrationsHyperparathyroidismSurgeryPatientsDiseaseAdultsHypercalciuria
2004
Fibroblast Growth Factor 23, Parathyroid Hormone, and 1α,25-Dihydroxyvitamin D in Surgically Treated Primary Hyperparathyroidism
Tebben P, Singh R, Clarke B, Kumar R. Fibroblast Growth Factor 23, Parathyroid Hormone, and 1α,25-Dihydroxyvitamin D in Surgically Treated Primary Hyperparathyroidism. Mayo Clinic Proceedings 2004, 79: 1508-1513. PMID: 15595334, DOI: 10.4065/79.12.1508.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkersDihydroxycholecalciferolsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsFollow-Up StudiesHumansHyperparathyroidismMaleMiddle AgedParathyroid GlandsParathyroid HormoneParathyroidectomyPostoperative CarePreoperative CareProbabilityProspective StudiesSampling StudiesSensitivity and SpecificitySeverity of Illness IndexStatistics, NonparametricTreatment OutcomeConceptsBone-specific alkaline phosphataseBone-specific alkaline phosphatase concentrationsFibroblast growth factor 23Primary hyperparathyroidismParathyroid hormoneSerum phosphorus concentrationFGF23 concentrationsSerum calciumSurgically treated primary hyperparathyroidismElevated serum calciumLow-normal rangeParathyroid hormone concentrationsAdult patientsPreoperative stateSerum phosphorusPostoperative stateHyperparathyroidismHealthy controlsFibroblast growth factorPatientsFGF23Growth factorSurgerySerumPhosphorus homeostasis