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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Adrenal P1

Leptin is Associated with Serum Aldosterone in Paediatric Subjects, Independently of Body Mass Index, Blood Pressure and Plasma Renin Activity
aDivision of Pediatrics, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile; bDepartment of Endocrinology, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile; cDepartment of Molecular Genetics and Microbiology, Millennium Institute on Immunology and Immunotherapy, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile; dDepartment of Clinical Laboratories, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile
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Mast Cells and Steroidogenesis in the Human Fetal Adrenal
aINSERM U982, Laboratory of Differentiation & Neuronal and Neuroendocrine Communication, Institute for Research and Innovation in Biomedicine, University of Rouen, Mont-Saint-Aignan, France; bDepartment of Pathology, University Hospital of Rouen, NeoVasc Region-Inserm Team ERI28, Institute for Research and Innovation in Biomedicine, University of Rouen, Rouen, France; cEndocrine Section, Department of Medicine, G.V. (Sonny) Montgomery VA Medical Center and University of Mississippi Medical Center, Jackson, MS, USA; dDepartment of Biochemistry, School of Medicine, Keio University, Tokyo, Japan
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Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance, who did not have Mutations in the NR3C1 Gene
aDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece; bDivision of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Greece; cInstitute of Molecular Biology, Genetics and Biotechnology, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
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Novel CYP11A1 Mutations in 15 Patients (13 Families) with Variable Clinical Presentations
aLaboratoire d’Endocrinologie Moléculaire et Maladies Rares, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; bService d’Endocrinologie et Croissance, hôpital universitaire Necker-Enfants malades, Paris, France; cService d’Endocrinologie pédiatrique, Diabète et Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France; dEndocrinologo Pediatra, Centro Medico Orinoco, Ciudad Guayana, Estado Bolivar, Venezuela; eDépartement de pédiatrie médicale, Hôpital de la Mère et de l’Enfant, CHU de Limoges, Limoges, France; fUnité d’Endocrinologie/Diabétologie et Gynécologie de l’Enfant et de l’Adolescent, Hôpital d’Enfants, CHU Ibn Rochd, Casablanca, Morocco; gMetabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
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Transient Generalized Glucocorticoid Hypersensitivity Syndrome
aDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece; bDivision of Endocrinology and Metabolism, Clinical Research Center, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
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The Effect of Obesity on the Stress Response: The Paradigm of Surgical Stress
aFirst Department of Pediatrics, University of Athens, School of Medicine, “Aghia Sophia” Children’s Hospital, Athens, Greece; cDepartment of Pediatric Surgery, Attikon University Hospital, Athens, Greece; dDepartment of Clinical Biochemistry, “Aghia Sophia” Children’s Hospital, Athens, Greece.
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Long-term Anthropometric Outcome of Girls with Non-classical Congenital Adrenal Hyperplasia Diagnosed in Childhood
aThe Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel; bSackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel
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Current Dilution Methods Cause Large Variations and Inaccuracies when Making up 1 μg Synacthen Dose
aUniversity of Sheffield, Sheffield, UK; bSheffield Children’s Foundation NHS Trust, Sheffield, UK; cNottingham University Hospitals NHS Trust, Nottingham, UK; dSheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
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Evaluation of the Glucocorticoid, Mineralocorticoid, and Adrenal Androgen Secretion Dynamics in A Large Cohort of Patients Aged 6-18 Years with Transfusion-dependent [beta]-Thalassemia Major, with an Emphasis on the Impact of Cardiac Iron Load
aDepartment of Pediatric Endocrinology and Diabetes, Sisli Hamidiye Etfal Education and Research Hosipital, Istanbul, TR, Turkey; bDepartment of Hematology and Oncology, Sanliurfa, Sanliurfa Children’s State Hospital, TR, Turkey; cDepartment of Radiology, School of Medicine, Dicle University, Diyarbakir, TR, Turkey; dDepartment of Pediatrics, School of Medicine, Harran University, Sanliurfa, TR, Turkey; eDepartment of Pediatric Cardiology, Sanliurfa Children’s State Hospital, Sanliurfa, TR, Turkey; fDepartment of Pediatrics, Sanliurfa Children’s State Hospital, Sanliurfa, TR, Turkey; gDepartment of Radiology, Sanliurfa Children’s State Hospital, Sanliurfa, TR, Turkey; hDepartment of Pediatric Endocrinology and Diabetes, Trabzon Kanuni Education and Research Hospital, Trabzon, TR, Turkey; iDepartment of Pediatrics, School of Medicine, Istanbul University, Istanbul, TR, Turkey; jDepartment of Adolescent Medicine, School of Medicine, Istanbul University, Istanbul, TR, Turkey
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Testicular Adrenal Rest Tumours in 50 Boys, Adolescents and Adult Male with Congenital Adrenal Hyperplasia
aDepartment of Pediatric Endocrinology, Clinical Hospital Centre Zagreb, University of Zagreb Medical School, Zagreb, Croatia; bClinical Department of Diagnostic and Interventional Radiology, Clinical Hospital Centre Zagreb, Zagreb, Croatia; cDepartment for Tissue Typing, Clinical Department for Laboratory Diagnostics, Clinical Hospital Centre Zagreb, Zagreb, Croatia; dEndocrinological Laboratory, Clinical Department of Laboratory Diagnostics, Clinical Hospital Centre Zagreb, Zagreb, Croatia; eDepartment of Pediatric Endocrinology, Clinical Hospital Centre Split, Split, Croatia
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Establishment of Clinical and Lab Algorithms for the Identification Carriers of Mutations in CYP21A2 - A Study of 768 Children and Adolescents
aUniversity Münster, Münster, Nordrhein-Westfahlen, Germany; bMVZ Dr. Eberhard & Partner, Dortmund, Nordrhein-Westfahlen, Germany
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A Unique Case of Dual Opposing Pathologies
aThe Evelina London Children’s Hospital, London, UK; bAlder Hey Children’s Hospital, Dublin, Ireland; cGreat Ormond Street Hospital, London, UK; dGuy’s & St Thomas Hospital, London, UK; eKing’s College Hospital, London, UK; fUniversity College London Hospitals, London, UK
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Individualized Optimization with 17OHP-Saliva Profiles Leads to Changes in Hydrocortisone Dosing Pattern in Children with Congenital Adrenal Hyperplasia
aInstitute for Experimental Paediatric Endocrinology, Charité-Universitätsmedizin Berlin, Berlin, Germany; bSozialpädiatrisches Zentrum, Charité-Universitätsmedizin Berlin, Berlin, Germany
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Cortisol Response to ACTH Stimulation Test in Non-Classical Congenital Adrenal Hyperplasia
aEndocrinology Department, P & A Kyriakou children’s Hospital, Athens, Greece; bMicrobiology Department, P & A Kyrakou Children’s Hospital, Athens, Greece; cChoremis Research Laboratory, Agia Sophia Children’s Hospital, Athens, Greece
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Altered Stress System Activity in Children with ADHD
aFirst Department of Pediatrics, National and Kapodistrian University of Athens, School of Medicine, “Aghia Sofia” Children’s Hospital, Athens, Greece; bDepartment of Anatomy, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece; cDepartment of Child Psychiatry, National and Kapodistrian University of Athens, School of Medicine, “Aghia Sofia” Children’s Hospital, Athens, Greece; dDepartment of Clinical Biochemistry, “Aghia Sofia” Children’s Hospital, Athens, Greece
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Heterozygous Mutations in CYP11A1 Gene can Cause Life-Threatening Salt Wasting and Failure to Thrive
aAthens Medical Center, Athens, Greece; bAttikon University Hospital, Athens, Greece; cGenetic Diagnostic Network (GENDIA), Antwerp, Belgium
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HIV Drugs as a Possible Cause for Transient 21-Hydroxylase Deficiency in a Preterm Infant
aDepartment of Pediatrics, Division of Pediatric Endocrinology and Diabetology, Inselspital, University Hospital, University of Bern, Bern, Switzerland; bDepartment of Pediatrics, Division of Neonatology, Inselspital, University Hospital, University of Bern, Bern, Switzerland
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Increased Salivary and Hair Cortisol and Decreased Salivary Alpha-Amylase Concentrations in Obese Prepubertal Girls
aUniversity of Athens Medical School, Athens, Greece; bErasmus MC, Rotterdam, The Netherlands; cAghia Sophia Children’s Hospital, Athens, Greece
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An Assessment of the Hypothalamic-Pituitary-Adrenal Axis in Children with Prader-Willi Syndrome
aNational Children’s Hospital, Dublin, Ireland; bTrinity College, Dublin, Ireland
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Combined Glucocorticoid and Mineralocorticoid Deficiency Related to a New NNT Mutation: A Case Report
aLaboratoire d’Endocrinologie Moléculaire et Maladies Rares, Hospices Civils de Lyon, Lyon, France; bService d’endocrinologie Pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France
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Reference Intervals for the Steroid Hormones of 6 to 14 year Old Normal Male Children with LC-MS Method
Beijing Children’s Hospital affiliated of Capital Medical University, Beijing, China
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Growth of Children with Congenital Adrenal Hyperplasia (CAH) During the First 2 years of Life - Data from the Duth Longitudinal Registry
aRadboud University Medical Centre, Nijmegen, The Netherlands; bErasmus Medical Centre, Rotterdam, The Netherlands; cUniversity Medical Centre Groningen, Groningen, The Netherlands; dLeiden University Medical Centre, Leiden, The Netherlands; eSt Anthonius Hospital, Nieuwegein, The Netherlands; fUniversity Medical Centre Utrecht, Utrecht, The Netherlands; gVU Medical Centre, Amsterdam, The Netherlands; hCatharina Hospital, Eindhoven, The Netherlands; iAmsterdam Medical Centre, Amsterdam, The Netherlands; jTNO, Leiden, The Netherlands.
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Molecular Confirmatory Test Improves the Accuracy of Congenital Adrenal Hyperplasia Diagnosis in Newborn Screening Program
aLaboratório de Hormônios e Genética Molecular- LIM/42, Unidade de Adrenal, Disc. de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo/Sao Paulo, Brazil; bassociação De Pais E Amigos Dos Excepcionais (APAE) do Estado de Goiás, Anapolis/Goias, Brazil
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Usefulness of Corticotropin Test in Children and Adolescents with Clinical Hyperandrogenism
aEndocrinology Department, P and A Kyriakou Children’s Hospital, Athens, Greece; bMicrobiology Department, P and A Kyrakou Children’s Hospital, Athens, Greece; cChoremis Research Laboratory, Agia Sophia Children’s Hospital, Athens, Greece
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Primary Adrenal Insufficiency in Children: Results from a Large Nationwide Cohort
aPediatric Endocrinology Unit, Department of Translational Medical Sciences, University “Federico II” of Naples, Naples, Italy; bUnit of Endocrinology and Diabetes, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; cPediatric Endocrinology Unit, Department of Pediatrics, S. Orsola-Malpighi University Hospital of Bologna, Bologna, Italy; dDepartment of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, Milan, Italy; ePediatrics Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy; fDepartment of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy; gPediatric Endocrine Unit, Department of Pediatrics, IRCCS, Children’s Hospital Giannina Gaslini, Genova, Italy; hDepartment of Paediatrics, Regional Hospital, Bolzano, Italy; iDepartment of Medicine (DIMED)-Endocrinology, University of Padua, Padova, Italy
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Follow-up of Growth and Puberty in Girls and Boys with Premature Adrenarche
aKuopio University Hospital, Kuopio, Finland; bUniversity of Eastern Finland, Kuopio, Finland; cHelsinki University Hospital, Helsinki, Finland
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Early Onset Hypertension with Primary Hyperaldosteronism through Mutation in the Calcium Channel CACNA1H - Case Report
aNational Institute of Endocrinology C. I. Parhon, Bucharest, Romania; bMedicover SRL, Bucharest, Romania; cUniversity of Medicine and Pharmacy Carol Davila, Bucharest, Romania; dDepartment of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA; eYale Center for Mendelian Genomics, New Haven, CT, USA.
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Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort
aLaboratório de Hormônios e Genética Molecular- LIM/42, Unidade de Adrenal, Disc. de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo/Sao Paulo, Brazil; bUnidade de Endocrinologia Pediátrica do Instituto da CrianÇa do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo/Sao Paulo, Brazil
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RET and TP53 Concomitant Mutations: A Challenging Approach to a Unique Association of High Tumor Predisposing Conditions
aOxford Center for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK; bDepartment of Endocrinology, University of Tor Vergata Rome, Rome, Italy
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Acute Lysis of a Giant Pediatric Adrenal Cortical Carcinoma Following One Dose of op'DDD
aPediatric Endocrinology, Bicêtre, France; bPediatric Intensive Care, Bicêtre, France
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Severe Hypertension in a Girl: Cushing Syndrome or Apparent Mineralocorticoid Excess Syndrome? Utility of Molecular Study
aUniversidad Catolica de Chile, Santiago, Region Metropolitana, Chile; bComplejo Asistencial Dr. Sótero del Río, Santiago, Region Metropolitana, Chile
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An Infant with X-linked Adrenal Hypoplasia Congenita and Xp21 Contiguous Gene Deletion Syndrome
aKaradeniz Technical University, School of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey; bKaradeniz Technical University, School of Medicine, Department of Neonatology, Trabzon, Turkey; cKaradeniz Technical University, School of Medicine, Department of Clinical Genetics, Trabzon, Turkey; dKaradeniz Technical University, School of Medicine, Department of Pediatric Neurology, Trabzon, Turkey
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Polymorphisms Analyze in Gene CYP21A2 Gene Associated with Congenital Adrenal Hyperplasia
aUniversidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil; bFundação Estadual de Produção e Pesquisa em Saúde (FEPPS) – Centro de Desenvolvimento Científico e Tecnológico (CDCT), Porto Alegre, Brazil; cHospital Materno-Infantil Presidente Vargas (HMIPV) – Serviço de Referência em Triagem Neonatal (SRTN), Porto Alegre, Brazil
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The Effect of Intrauterine Stress on Leukocyte Telomere Length in Newborns
aDivision of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Greece; bDepartment of Neonatology, Athens University Medical School, Aretaieion University Hospital, Athens, Greece; cDivision of Genetics, Center of Experimental Medicine and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece; dDepartment of Animal and Human Physiology, Faculty of Biology, University of Athens, Athens, Greece; eDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, Aghia Sophia Children’s Hospital, Athens, Greece
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Predictive Factors for Premature Pubarche in a Large Cohort of Italian Children
Service of Pediatric Endocrinology, Policlinico GB Rossi, University Hospital of Verona, Verona, Italy
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Cardiac Function in Pediatric Patients with Congenital Adrenal Hyperplasia
aDivision of Pediatric Endocrinology, Department of Pediatrics, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; bDepartment of Pediatrics, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; cMedical Ultrasound Imaging Center, Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands; dPediatric Cardiology Unit, Dana-Dwek Children’s Hospital, Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel; eDepartment of Pediatric Cardiology, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands
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