2024
8203 A Solitary Fibrous Tumor Mimicking a Non-functional Pituitary Macroadenoma
Rivera L, Omay S, Huttner A, Inzucchi S. 8203 A Solitary Fibrous Tumor Mimicking a Non-functional Pituitary Macroadenoma. Journal Of The Endocrine Society 2024, 8: bvae163.1113. PMCID: PMC11454692, DOI: 10.1210/jendso/bvae163.1113.Peer-Reviewed Original ResearchSolitary fibrous tumorMyelodysplastic syndromeCentral nervous systemFibrous tumorSoft tissue tumor of mesenchymal originHistory of primary hypothyroidismNon-functioning pituitary macroadenomaAdult growth hormone deficiencyHigh risk of recurrenceTumors of mesenchymal originCellular spindle cell neoplasmCentral adrenal insufficiencyProgressive visual lossGrowth hormone deficiencySpindle cell neoplasmPost-operative courseRisk of recurrenceConsistent with hemangiopericytomaBrain MRI findingsPost-menopausal womenSoft tissue tumorsAggressive mesenchymal tumorAnterior cerebral arteryHormonal workupFractionated Radiotherapy
2022
Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report
Craig M, Geng B, Wigby K, Phillips S, Bakhoum C, Naheedy J, Cernelc-Kohan M. Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report. Allergy, Asthma & Clinical Immunology 2022, 18: 15. PMID: 35189965, PMCID: PMC8862239, DOI: 10.1186/s13223-022-00655-5.Peer-Reviewed Original ResearchGrowth hormone deficiencyHormone deficiencyPI3K pathwayAnatomic abnormalitiesUnique presentationOligoarticular juvenile idiopathic arthritisCase presentationThe patientK pathwayPatient's unique presentationJuvenile idiopathic arthritisUnique clinical featuresNine-year-old boyYears of ageMild developmental delayWhole-exome sequencingMultidisciplinary collaborative approachImmune cytopeniasHip painMicroscopic hematuriaRecurrent sinusitisBilateral nephromegalyGH therapyIdiopathic arthritisClinical featuresUnclear etiology
2020
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
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 glandEYA1
2019
Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?
Gujral J, Yau M, Yang AC, Kastury R, Romero CJ, Wallach E, Wilkes M, Costin G, Rapaport R. Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence? Journal Of The Endocrine Society 2019, 3: 838-846. PMID: 30963141, PMCID: PMC6447946, DOI: 10.1210/js.2018-00386.Peer-Reviewed Original ResearchGrowth hormone deficiencyGH deficiencyGH secretionGH levelsSerum cortisolHormone deficiencyIGF-1Receptor defectElevated transaminase levelsRandom GH levelsTransient GH deficiencyEpisodes of hypoglycemiaMelanocortin 2 receptor geneHours of lifeFull-term boyUndetectable serum cortisolPg/mLMolecular genetic testingGlucocorticoid replacementHydrocortisone replacementTransaminase levelsCortisol deficiencyGH therapyNeonatal hypoglycemiaACTH levels
2001
Endocrine aspects of the 22q11.2 deletion syndrome
Weinzimer S. Endocrine aspects of the 22q11.2 deletion syndrome. Genetics In Medicine 2001, 3: 19-22. PMID: 11339371, DOI: 10.1097/00125817-200101000-00005.Peer-Reviewed Original ResearchConceptsGrowth hormone deficiencyEndocrine disturbancesEndocrine disordersHormonal disordersAppropriate screeningHormone deficiencyEndocrine aspectsEndocrinological manifestationsPatientsDiGeorge syndromeDeletion syndromeSyndromeDisordersCurrent understandingHypoparathyroidismHyperthyroidismHypothyroidismDeletion
1999
Serum IGF‐I and IGFBP‐3 concentrations do not accurately predict growth hormone deficiency in children with brain tumours
Weinzimer S, Homan S, Ferry R, Moshang T. Serum IGF‐I and IGFBP‐3 concentrations do not accurately predict growth hormone deficiency in children with brain tumours. Clinical Endocrinology 1999, 51: 339-345. PMID: 10469014, DOI: 10.1046/j.1365-2265.1999.00804.x.Peer-Reviewed Original ResearchConceptsIGF-binding protein-3Hypothalamic/chiasmatic gliomaIGFBP-3 levelsGrowth hormone deficiencyBody mass indexPrimitive neuroectodermal tumorHypothalamic-chiasmatic gliomaProvocative GH testingIGFBP-3 concentrationsIGF-I levelsGH deficiencyGH testingHormone deficiencySerum IGFBrain tumorsPubertal stageTumor typesLower IGFBP-3 levelsNormal IGF-1 levelsLow IGF-I levelsGrowth factor insulin-like growth factorInsulin-like growth factorIGF-1 levelsRetrospective case reviewBone age delay
1998
Acid-base Homeostasis in Children With Growth Hormone Deficiency
Glaser N, Shirali A, Styne D, Jones K. Acid-base Homeostasis in Children With Growth Hormone Deficiency. 1998, 102: 1407-1414. PMID: 9832577, DOI: 10.1542/peds.102.6.1407.Peer-Reviewed Original ResearchConceptsMean serum bicarbonate concentrationSerum bicarbonate concentrationGrowth hormone deficiencyStandard deviation scoreGH treatmentShort statureGrowth hormoneAcid-base homeostasisHormone deficiencyBicarbonate concentrationLower serum bicarbonate concentrationMild metabolic acidosisSerum electrolyte concentrationsNormal acid-base homeostasisCause of acidosisRenal functionUnclear etiologyMetabolic acidosisMedical recordsOverall prevalenceGrowth failureDeviation scoreStudy populationPatientsIntermediate probabilityThe Acid-Labile Subunit of Human Ternary Insulin-Like Growth Factor Binding Protein Complex in Serum: Hepatosplanchnic Release, Diurnal Variation, Circulating Concentrations in Healthy Subjects, and Diagnostic Use in Patients with Growth Hormone Deficiency
Juul A, Møller S, Mosfeldt-Laursen E, Rasmussen M, Scheike T, Pedersen S, Kastrup K, Yu H, Mistry J, Rasmussen S, Müller J, Henriksen J, Skakkebæk N. The Acid-Labile Subunit of Human Ternary Insulin-Like Growth Factor Binding Protein Complex in Serum: Hepatosplanchnic Release, Diurnal Variation, Circulating Concentrations in Healthy Subjects, and Diagnostic Use in Patients with Growth Hormone Deficiency. The Journal Of Clinical Endocrinology & Metabolism 1998, 83: 4408-4415. PMID: 9851786, DOI: 10.1210/jcem.83.12.5311.Peer-Reviewed Original ResearchConceptsAcid-labile subunitIGFBP-3GH deficiencyALS levelsHepatosplanchnic releaseNormal age-related rangesChildhood-onset GH deficiencyInsulin-like growth factorAge-related rangeSignificant arteriovenous gradientNormal GH responseGH secretory statusConcentrations of IGFLiver vein catheterizationGrowth hormone deficiencyCirculating ConcentrationsGH responseGHD patientsVein catheterizationSecretory statusArteriovenous gradientHormone deficiencyHealthy subjectsDiagnostic utilityIGFGrowth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype
Weinzimer S, McDonald-McGinn D, Driscoll D, Emanuel B, Zackai E, Moshang T. Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype. 1998, 101: 929-932. PMID: 9565428, DOI: 10.1542/peds.101.5.929.Peer-Reviewed Original ResearchConceptsGrowth hormone deficiencyShort statureCardiac anomaliesHormone deficiencyVelocardiofacial syndromeLike growth factor I axisProvocative growth hormone testingT-cell abnormalitiesGrowth hormone therapyGrowth hormone testingFinal height predictionConotruncal cardiac anomaliesThird of childrenConotruncal anomaly face syndromeMild facial dysmorphiaHormone therapyPituitary anatomyHormone testingPituitary abnormalitiesI axisThymic aplasiaCell abnormalitiesGeneral populationPatientsDiGeorge sequenceVariability of Low IGF-I and IGFBP-3 Levels in Predicting Growth Hormone Deficiency in Children with Brain Tumors † 497
Weinzimer S, Ferry R, Homan S, Moshang T. Variability of Low IGF-I and IGFBP-3 Levels in Predicting Growth Hormone Deficiency in Children with Brain Tumors † 497. Pediatric Research 1998, 43: 87-87. DOI: 10.1203/00006450-199804001-00518.Peer-Reviewed Original Research
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