Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

Card image cap
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
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
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
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
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
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
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.
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
Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution
aHospital Universitario Marques de Valdecilla, Santander, Spain; bHospital Gregorio Marañon, Madrid, Spain
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