Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Presentations

Thyroid

The Association between rs4684677 T/A Polymorphism in Preproghrelin Gene And predisposition to Autoimmune Thyroid Diseases in Children
aDepartment of Pediatric Endocrinology, Diabetology with Cardiology Division, Medical University, Bialystok, Poland; bDepartment of Infectious Diseases and Neuroinfections,, Bialystok, Poland; cDepartment of Endocrinology and Diabetes with Internal Medicine, Bialystok, Poland; dDivision of Cardiology, Internal Affairs Ministry Hospital in Białystok, Bialystok, Poland
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Chosen Polimorphisms in FoxP3 Gene in Children and Adolescents with Autoimmune Thyroid Diseases
aDepartment of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Bialystok, Poland; bDepartment of Endocrinology and Diabetes with Internal Medicine, Medical University in Bialystok, Bialystok, Poland; cClinic of Endocrinology and Diabetology Children’s Memorial Health Institute, Warsaw, Poland; dDepartment of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Wroclaw, Poland; eDepartment of Pediatrics, Hematology, Oncology and Endocrinology. Medical University in Gdansk, Gdansk, Poland; fDepartment of Pediatrics and Endocrinology. Medical University in Warsaw, Wroclaw, Poland; gDivision of Cardiology, Internal Affairs and Administration Ministry Hospital in Bialystok, Bialystok, Poland; hCentre for Experimental Medicine, Medical University of Bialystok, Bialystok, Poland; iDepartment of Pediatrics, Silesian Medical University, Bialystok, Poland
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TSH Receptor Gene Variants in Pediatric Patients with Non Autoimmune Hyperthyrotropinemia
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET – FEI – División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
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A Nonsense Thyrotropin Receptor Gene Mutation (R609X) is Associated with Congenital Hypothyroidism and Heart Defects
aDepartment of Medical Genetics, Bahcesehir University School of Medicine, Istanbul, Turkey; bClinics of Pediatric Endocrinology, Dr. Sami Ulus Research and Training Hospital of Women’s and Children’s Health and Diseases, Ankara, Turkey; cYildirim Beyazit University Medical School, Ankara, Turkey; dCentre for Genetic Diagnosis, Medical Park Goztepe Hospital, Istanbul, Turkey; eDivision of Clinical and Experimental Sciences, Department of Child Health, Faculty of, Southampton, UK; fSchool of Clinical and Experimental Medicine, Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, UK; gAcademic Department of Medical Genetics, University of Cambridge Clinical School, Cambridge, UK
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Genome-Wide Promoter Methylation Analysis in Cytologically Indeterminate Thyroid Nodules
aLaboratorio de Endocrinologia Celular e Molecular – LIM25, HCFMUSP, Sao Paulo/Sao Paulo, Brazil; bLaboratorio de Patologia Cardiovascular – LIM22, Sao Paulo/Sao Paulo, Brazil
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Genetic Analysis of the Paired Box Domain Gene in a Cohort of Polish Patients with Primary Congenital Hypothyroidism
aJagiellonian University Medical College, Krakow, Poland, bChair of Pediatrics, Division of Medical Genetics, Polish-American Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, cPediatric Endocrinology Out-Patient Clinic, Provincial Hospital No2, Rzeszow, Poland, dDivision of Mass Screening and Metabolic Diseases, University Children’s Hospital, Krakow, Poland
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Homozygous Deletion of The TSH[beta] Subunit Gene Causes Congenital Secondary Hypothyroidism in a Consanguineous Family of Turkish Descent
aDepartment of Pediatrics, University Medical Center Mainz, Mainz, Germany; bUniversity of Alberta Hospital, Edmonton, Alberta, Canada; cPediatric Endocrinology, Walter Mackenzie Health Sciences Centre, Edmonton, Alberta, Canada
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Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism
aLaboratorio di Ricerche Endocrino-Metaboliche e Divisione di Medicina ad indirizzo Endocrino-Metabolico, Milano, Italy; bDipartimento di Pediatria, Università dell’Insubria, Varese, Italy; cDipartimento di Fisiopatologia Clinica, Università di Firenze, Firenze, Italy, dDipartimento di Pediatria, Ospedale A.Poma, Mantova, Italy; eDipartimento di Auxo-Endocrinologia, Spedali Civili di Brescia, Brescia, Italy, fDipartimento di Pediatria, Ospedale Regionale di Bolzano, Bolzano, Italy; gDipartimento di Scienze Cliniche e di Comunità, Università di Milano, Milano, Italy; hMetabolic Research Lab, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK; iDepartment of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands; jDepartment of Endocrinology and Metabolism and Center for Endocrine Tumors Leiden, Leiden University Medical Center, Leiden, The Netherlands; kDepartment of Pharmacology and Therapeutics, McGill University Montreal, Montreal, Quebec, Canada; lDipartimento Materno-infantile, Policlinico San Matteo, Pavia, Italy
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A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea
aPediatrics Unit, Department of Medical and Surgical Sciences Mother, Children and Adult, University of Modena & Reggio Emilia, Modena, Italy, bClinical Genetic Unit, Obstetric and Pediatric Department, S. Maria Nuova Hospital, Reggio Emilia, Italy, cChild Neurology Unit, Obstetric and Pediatric Department, S. Maria Nuova Hospital, Reggio Emilia, Italy
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Twin Couples and/or Triplets Discordant for Congenital Hypothyroidism at Birth: the Importance of the Re-screening at 2-4 Weeks of Life
aItalian National Institute of Health, Rome, Italy; bDepartment of Medical Sciences and Surgery, University of Bologna, Bologna, Italy; cVita-Salute University, IRCCS San Raffaele Hospital, Milan, Italy; dUniversity ‘La Sapienza’, Rome, Italy; eDepartment of Clinical and Molecular Biomedicine, Garibaldi Hospital, Catania, Italy
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Congenital Hypothyroidism and Tuberous Sclerosis: an Association or a Coincidence?
aPediatric Unit of Perrino Hospital, Brindisi, Italy; bAnatomical Pathology Unit of Azienda Ospedaliera San Paolo, Milan, Italy
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Evaluation of Serum Cytokines IL-6 and Osteoprotegerin Measurements in the Diagnosis of Chronic Autoimmune Thyroiditis and Graves' Disease in Children
a2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, 27/33 Szpitalna Street, 60-572 Poznan, Poland; b3nd Chair of Pediatrics, Department of Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, 27/33 Szpitalna Street, 60-572 Poznan, Poland
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