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ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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

Poster Category 2

Adrenals & HP Axis (1)

Osteoporosis in Triple A Syndrome: an Overlooked Symptom of Unexplained Etiolaogy
aClinical Hospital Centre Zagreb, Zagreb, Croatia; bTechnische Universität Dresden, Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus, Dresden, Germany
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The Results of CYP21A2 Mutation Analysis in Adolescent with Polycystic Ovary Syndrome
aDivision of Pediatric Endocrinology, Keçiören Research and Educational Hospital, Ankara, Turkey; bDivision of Pediatric Endocrinology, Keçiören Research and Educational Hospital, Yildirim Beyazit University, Ankara, Turkey; cDivision of Pediatric Endocrinology; Pediatry Department, Keçiören Research and Educational Hospital, Ankara, Turkey
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Nonclassic Lipoid Adrenal Hyperplasia with R272C STAR Mutation: a Case Report
aDivision of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan; bDivision of Pediatric Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults, Kagawa, Japan
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Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family
aQueens Hospital Romford, London, UK; bGreat Ormond Street Hospital, London, UK; cAlderhey Children’s Hospital, Liverpool, UK; dUniversity of Cambridge Metabolic Laboratories, Cambridge, UK
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Non-virilizing Congenital Adrenal Hyperplasia in a Female Patient: Report of a Novel HSD3B2 Mutation
aChildren’s Hospital of Eastern Switzerland, 9006 St Gallen, Switzerland; bUniversity Children’s Hospital, 3011 Bern, Switzerland
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Do Neonates Need a Short Synacthen Test to Investigate the Adrenal Axis?
aSheffield Children’s Hospital, Sheffield, UK; bUniversity of Sheffield, Sheffield, UK; cSheffield Teaching Hospitals, Sheffield, UK
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Genotype-Phenotype Discordant Patients with Homozygous Intron 2 Mutation (IVS2) of CYP21 Gene
aDepartment of Pediatric Endocrinology, University of Ankara School of Medicine, Ankara, Turkey; bDepartment of Medical Genetic, University of Ankara School of Medicine, Ankara, Turkey.
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A 26-Day-Old Japanese Girl with Aldosterone Synthase Deficiency Caused by a Novel Mutation in the CYP11B2 Gene
aDepartment of Pediatrics, Dokkyo Medical University, Tochigi, Japan; bDepartment of Pediatrics, Hokkaido University School of Medicine, Hokkaido, Japan
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Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution
aHospital Universitario Marques de Valdecilla, Santander, Spain; bHospital Gregorio Marañon, Madrid, Spain
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Steroid 11[beta]-Hydroxylase Deficiency Due to CYP11B1 Mutations in Females with Hyperandrogenemia
aThe Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus; bMakarios III Hospital, Nicosia, Cyprus; cIasis Hospital, Paphos, Cyprus; dSt George’s, University of London Medical School at the University of Nicosia, Nicosia, Cyprus
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