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 tumors
2021
Three 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
Congenital 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 Original ResearchMeSH 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 phenotype
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 Clinic
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
2013
Tumor‐Induced Osteomalacia Resulting from Primary Cutaneous Phosphaturic Mesenchymal Tumor: A Case and Review of the Medical Literature
Gardner K, Shon W, Folpe A, Wieland C, Tebben P, Baum C. Tumor‐Induced Osteomalacia Resulting from Primary Cutaneous Phosphaturic Mesenchymal Tumor: A Case and Review of the Medical Literature. Journal Of Cutaneous Pathology 2013, 40: 780-784. PMID: 23962115, DOI: 10.1111/cup.12209.Peer-Reviewed Original ResearchClinical spectrum of hypophosphatasia diagnosed in adults
Berkseth K, Tebben P, Drake M, Hefferan T, Jewison D, Wermers R. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 2013, 54: 21-27. PMID: 23352924, DOI: 10.1016/j.bone.2013.01.024.Peer-Reviewed Original ResearchConceptsMusculoskeletal painAbsence of genetic testingUrine phosphoethanolamineHistory of fractureAdult hypophosphatasiaHip/femoral neckClinical manifestationsClinical spectrum of hypophosphatasiaSubtrochanteric femur fracturesIncident fracturesLow serum alkaline phosphataseDiagnostic codesIliac crest bone biopsiesAlkaline phosphataseFracture patientsFamily historyConsistent with osteomalaciaEvidence of osteomalaciaInclusion criteriaGenetic testingFemur fracturesMedical recordsSerum alkaline phosphataseSymptomatic subjectsRadiographic chondrocalcinosis
2012
Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy
Tebben P, Milliner D, Horst R, Harris P, Singh R, Wu Y, Foreman J, Chelminski P, Kumar R. Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e423-e427. PMID: 22337913, PMCID: PMC3319216, DOI: 10.1210/jc.2011-1935.Peer-Reviewed Original ResearchConceptsSplice junction mutationElevated serum 1,25-dihydroxyvitamin DSerum 1,25-dihydroxyvitamin DAutosomal dominant transmissionCYP24A1 geneIntermittent hypercalcemiaUrinary calciumAnalysis of family membersDominant transmissionNormal rangeD concentrationsElevated 1,25-dihydroxyvitamin DReduced bone mineral densitySerum 24,25-dihydroxyvitamin DCYP24A1 gene mutationsElevated urinary calciumReduced urinary calciumBone mineral densityGenetic analysisGenetic basisElevated 1,25-dihydroxyvitamin D concentrationsStatistically significant reductionDecreased PTH concentrationsFamily membersGenes
2010
Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
Kirmani S, Tebben P, Lteif A, Gordon D, Clarke B, Hefferan T, Yaszemski M, McGrann P, Lindor N, Ellison J. Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome. American Journal Of Medical Genetics Part A 2010, 152A: 1016-1019. PMID: 20358619, DOI: 10.1002/ajmg.a.33356.Peer-Reviewed Original ResearchConceptsLow bone mineral densityBone mineral densityMarfan syndromeSkeletal fragilitySurgical repairMineral densityTalipes equinovarusEhlers-Danlos syndrome type IVFamilial aortic aneurysmsAortic root dilatationSubmucous cleft palateLoeys-Dietz syndromeRoot dilatationCleft palateFragility fracturesSignificant skeletal deformityHeterozygous mutationsReceptor mutationsPectus excavatumVascular fragilityEDS-IVInguinal herniaAortic aneurysmAscending aortaVascular complications
2007
Granulomatous Adenohypophysitis after Interferon and Ribavirin Therapy
Tebben P, Atkinson J, Scheithauer B, Erickson D. Granulomatous Adenohypophysitis after Interferon and Ribavirin Therapy. Endocrine Practice 2007, 13: 169-175. PMID: 17490932, DOI: 10.4158/ep.13.2.169.Peer-Reviewed Original ResearchConceptsInterferon alfa-2bGranulomatous hypophysitisMagnetic resonance imagingRibavirin therapyAlfa-2bOptic chiasmMultiple anterior pituitary hormone deficiencyTreated with interferon alfa-2bRadiographic evidenceAnterior pituitary hormone deficienciesFollow-up magnetic resonance imagingSupraphysiologic doses of prednisoneCase of granulomatous hypophysitisElevated angiotensin-converting enzyme levelDiffuse pituitary enlargementInterferon-induced thyroiditisAngiotensin-converting enzyme levelsHigh-dose glucocorticoidsResonance imagingPituitary hormone deficiencyEvidence of thyroiditisSymptoms of thyrotoxicosisDoses of glucocorticoidsDose of prednisonePhysiological doses of glucocorticoids
2005
Elevated fibroblast growth factor 23 in women with malignant ovarian tumors.
Tebben P, Kalli K, Cliby W, Hartmann L, Grande J, Singh R, Kumar R. Elevated fibroblast growth factor 23 in women with malignant ovarian tumors. Mayo Clinic Proceedings 2005, 80: 745-51. PMID: 15948297, DOI: 10.1016/s0025-6196(11)61528-0.Peer-Reviewed Original ResearchConceptsAdvanced-stage ovarian cancerEarly-stage ovarian cancerOvarian cancerFGF23 concentrationsPlasma FGF23 concentrationCFGF23 concentrationsSerum iFGF23Ovarian tumorsHealthy womenMalignant ovarian cancer cellsMalignant ovarian tumorsBenign ovarian tumorsAdvanced-stage diseaseAdvanced-stage tumorsFibroblast growth factor 23Elevated fibroblast growth factorOvarian cancer cellsSerum phosphate concentrationStage of diseaseSerum FGF23 concentrationsOvarian massBenign diseaseSerum phosphorusBenign massesMayo Clinic
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