2025
5. A rare case of 45X/46XY mosaic Turner syndrome in a neonate
Garg A, Hittelman A, Lepore C, Gujral J, Derar N, Vash-Margita A. 5. A rare case of 45X/46XY mosaic Turner syndrome in a neonate. Journal Of Pediatric And Adolescent Gynecology 2025, 38: 232. DOI: 10.1016/j.jpag.2025.01.038.Peer-Reviewed Original ResearchMosaic Turner syndromeTurner syndromeUrogenital sinusHemi-uterusStreak gonadsMullerian structuresFallopian tubeAmbiguous genitaliaInguinal canalSurgical findingsRare caseLeft inguinal hernia repairLeft inguinal canalRight streak gonadRisk of gonadoblastomaPrenatal cell-free DNAInguinal hernia repairSerum hormone evaluationCell-free DNAWeeks of lifeDysgenetic gonadsInguinal orchiopexySingle cervixDiagnostic laparoscopyUncomplicated pregnanciesCurrent Practices in Fertility-Based Counseling Among Individuals With Turner Syndrome: A Retrospective Study
Beroukhim G, Kastury R, Davidson K, Bergmann J, Vash-Margita A. Current Practices in Fertility-Based Counseling Among Individuals With Turner Syndrome: A Retrospective Study. Journal Of Pediatric And Adolescent Gynecology 2025, 38: 474-480. PMID: 39922296, DOI: 10.1016/j.jpag.2025.02.002.Peer-Reviewed Original ResearchAutologous assisted reproductive technologyFP counselingTurner syndromeMonosomy XFertility preservationControlled ovarian hyperstimulationReceipt of counselingCardiac anomaliesAssisted Reproductive TechnologyRetrospective studyFertility counselingOvarian hyperstimulationOocyte cryopreservationEmbryo cryopreservationLow bone densityReproductive technologyGroup of providersIndividuals aged 0TS karyotypeCounselingBone densityCohort studyMonosomyEvaluate current practiceMultidisciplinary group of providers
2022
CURRENT PRACTICES IN INFERTILITY AND FERTILITY PRESERVATION COUNSELING AMONG PATIENTS WITH TURNER SYNDROME
Beroukhim G, Kastury R, Davidson K, Bergmann J, Vash-Margita A. CURRENT PRACTICES IN INFERTILITY AND FERTILITY PRESERVATION COUNSELING AMONG PATIENTS WITH TURNER SYNDROME. Fertility And Sterility 2022, 118: e216. DOI: 10.1016/j.fertnstert.2022.08.613.Peer-Reviewed Original ResearchOOCYTE CRYOPRESERVATION WITH IN VITRO MATURATION, A FEASIBLE OPTION FOR FERTILITY PRESERVATION IN ADOLESCENTS WITH MOSAIC TURNER SYNDROME
Lafuente S, Turan V, Oktay K. OOCYTE CRYOPRESERVATION WITH IN VITRO MATURATION, A FEASIBLE OPTION FOR FERTILITY PRESERVATION IN ADOLESCENTS WITH MOSAIC TURNER SYNDROME. Fertility And Sterility 2022, 118: e69. DOI: 10.1016/j.fertnstert.2022.08.214.Peer-Reviewed Original Research
2020
Common Congenital Syndromes and Disease States Impacting Regional Anesthesiology Techniques
Thomas D, Missih O, Zhu R, Suchy T, Vadivelu N. Common Congenital Syndromes and Disease States Impacting Regional Anesthesiology Techniques. 2020, 111-122. DOI: 10.1007/978-3-030-55660-0_6.ChaptersHigh riskCommon congenital syndromeLimited neck mobilityTurner syndromeBicuspid aortic valveRisk of aspirationType 2 diabetesIntraoperative hypertensionLiver dysfunctionAortic dissectionHearing changesKidney functionHorseshoe kidneyInsulin resistanceNeck mobilityAortic valveAnesthesiology techniquesArched palateCongenital syndromeMaxillary hypoplasiaAnatomic differencesCognitive impairmentNormal tracheaKidney abnormalitiesShort stature
2011
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees S, Hager K, Hosono S, Wise A, Li P, Rinder H, Gruen J. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. Obstetrical & Gynecological Survey 2011, 66: 421-422. DOI: 10.1097/ogx.0b013e3182338c32.Peer-Reviewed Original ResearchTurner syndromeKaryotype testingSingle nucleotide polymorphismsShort statureGrowth hormone therapyClear clinical evidenceFinal adult heightYears of ageDelay of interventionNormal adult statureSteroid therapyDetection of individualsHormone therapyClinical evidenceControl subjectsSubset of cellsClinical usefulnessEarly diagnosisLive birthsDiagnostic criteriaDelay onsetGrowth hormoneHeterozygous rangeLate onsetPubertal development
2010
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 699-705. PMID: 21177792, PMCID: PMC3047225, DOI: 10.1210/jc.2010-1554.Peer-Reviewed Original ResearchConceptsX chromosomeInformative single nucleotide polymorphism (SNP) markersSingle nucleotide polymorphism (SNP) markersHigh-throughput assaysPolymorphism markersSingle nucleotide polymorphismsY chromosome materialRAS valuesBuccal swab DNAX chromosome abnormalitiesHigh-throughput testChromosomal mosaicismTurner syndromeDNAMarkersFemalesTS benefitSpecificityT detectionKaryotypeHomozygosityPolymorphismMosaicismAssaysLarge-scale studies
2007
Hepatocellular Carcinoma and Congenital Absence of the Portal Vein in a Child Receiving Growth Hormone Therapy for Turner Syndrome
Morotti R, Killackey M, Shneider B, Repucci A, Emre S, Thung S. Hepatocellular Carcinoma and Congenital Absence of the Portal Vein in a Child Receiving Growth Hormone Therapy for Turner Syndrome. Seminars In Liver Disease 2007, 27: 427-431. PMID: 17979078, DOI: 10.1055/s-2007-991518.Peer-Reviewed Original ResearchConceptsFocal nodular hyperplasiaTurner syndrome patientsPortal veinNodular hyperplasiaSyndrome patientsHepatocellular carcinomaTurner syndromeGrowth hormone therapyRecombinant human growth hormoneHuman growth hormoneLiver transplantHormone therapyYounger patientsHepatic adenomaVascular anomaliesRelative riskCongenital absenceLiver lesionsGrowth hormonePatientsSyndromeCarcinomaHyperplasiaVeinTransplant
1992
Effect of growth hormone treatment on hyperinsulinemia associated with turner syndrome
Caprio S, Boulware S, Press M, Sherwin R, Rubin K, Carpenter T, Plewe G, Tamborlane W. Effect of growth hormone treatment on hyperinsulinemia associated with turner syndrome. The Journal Of Pediatrics 1992, 120: 238-243. PMID: 1735819, DOI: 10.1016/s0022-3476(05)80434-2.Peer-Reviewed Original ResearchConceptsControl subjectsGrowth hormoneTurner syndromeHyperinsulinemic responseInsulin responseHyperglycemic glucose clamp techniqueSecond-phase insulin responseInsulin-stimulated glucose metabolismGlucose-stimulated insulin responseMonths of therapyMonths of treatmentTotal cholesterol levelsExcessive insulin secretionGrowth hormone treatmentGlucose clamp techniqueGlucose clamp procedureHuman growth hormoneBlood pressureGlucose incrementGlycosylated hemoglobinInsulin resistancePlasma levelsCholesterol levelsClamp procedureHealthy children
1991
Insulin Resistance: An Early Metabolic Defect of Turner's Syndrome*
CAPRIO S, BOULWARE S, DIAMOND M, SHERWIN R, CARPENTER TO, RUBIN K, AMIEL S, PRESS M, TAMBORLANE W. Insulin Resistance: An Early Metabolic Defect of Turner's Syndrome*. The Journal Of Clinical Endocrinology & Metabolism 1991, 72: 832-836. PMID: 2005209, DOI: 10.1210/jcem-72-4-832.Peer-Reviewed Original ResearchConceptsInsulin-stimulated glucose metabolismEarly metabolic defectsNormal controlsGlucose metabolismTurner syndromeEuglycemic clampInsulin resistanceGroup 2Metabolic defectsTurner patientsAge-matched normal controlsChain amino acid levelsGroup of patientsRisk of diabetesNonoxidative glucose disposalIntracellular glucose metabolismWhole-body glucoseHepatic glucose productionNondiabetic patientsEstrogen therapyHormone therapyYounger patientsGlucose disposalHepatic sensitivityInsulin sensitivityLaparoscopic adnexectomy in a prepubertal Turner mosaic female with isodicentric Y
Seifer DB, Meyers-Seifer CH, Lavy G, Genel M, DeCherney AH, Yang-Feng TL. Laparoscopic adnexectomy in a prepubertal Turner mosaic female with isodicentric Y. Human Reproduction 1991, 6: 566-567. PMID: 1918308, DOI: 10.1093/oxfordjournals.humrep.a137380.Peer-Reviewed Original Research
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