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

Adrenals & HP Axis

Allelic Frequencies of CYP21A2 Variants and Genotype-Phenotype Correlations in a Cohort of 660 CAH Patients from Germany and Austria
aSt Anna Children’s Hospital, Medical University of Vienna, Vienna, Austria; bDepartment of Pediatric Pulmology, Allergology, and Endocrinology, Medical University of Vienna, Vienna, Austria; cInstitute of Biometry and Medical Informatics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany; dDepartment of Pediatrics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany; eDepartment of Pediatrics, Technical University Munich, Munich, Germany; fDepartment of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany; gInstitute of Epidemiology and Medical Biometry, University of Ulm, Ulm, Germany
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Functional Characterization of a Novel Heterozygous Point Mutation in the Human Glucocorticoid Receptor Gene Causing Primary Generalized Glucocorticoid Resistance
aDivision of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Attiki, Greece; bBioinformatics and Medical Informatics Team, Biomedical Research Foundation of the Academy of Athens, Athens, Attiki, Greece; cDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, Aghia Sophia Children’s Hospital, University of Athens Medical School, Athens, Attiki, Greece
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Transient Generalized Glucocorticoid Hypersensitivity: Clinical Manifestations, Endocrinologic Evaluation, and Transcriptomic Profile: the Potential Role of nf-[kappa]b
aDivision of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Attiki, Greece; bInstitute of Molecular Biology, Biomedical Research Foundation of the Academy of Athens, Athens, Atiki, Greece; cUnit on Molecular Hormone Action, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA; dDivision of Hematology, Biomedical Research Foundation of the Academy of Athens, Athens, Attiki, Greece; eFirst Pediatric Department, Aristotle University Medical School, Thessaloniki, Greece; fFirst Department of Pediatrics, Aghia Sophia Children’s Hospital, University of Athens Medical School, Athens, Attiki, Greece
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Mineralo and Glucocorticoid Deficiency in Early Infancy are Caused by a Founder Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase Gene
aDivision of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel; bMedical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel; cHadassah Medical School, Hebrew University, Jerusalem, Israel; dEdmond J. Safra Campus, Department of Genetics, The Hebrew University of Jerusalem, Jerusalem, Israel
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Descriptive Analyses of Turner Syndrome
Justus-Liebig University, Giessen, Germany
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A Novel Founder Mutation of CYP21A2 in Patients with CAH due to 21-Hydroxylase Deficiency
aSchool of Medicine, Karadeniz Technical University, Trabzon, Turkey; bDepartment of Pediatric Endocrinology, Trabzon, Turkey; cDepartment of Medical Biology, Trabzon, Turkey
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Normal Value of Steroids in Amniotic Fluid by LC-MS/MS Method
aHormonology and Endocrinology Molecular, Hospices Civils de Lyon, Bron, France; bU846, University Claude Bernard Lyon, Lyon, France; cUniversity Claude Bernard Lyon, Lyon, France; dCytogenetique, Hospices Civils de Lyon, Bron, France
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Mast Cells in Human Adrenal Gland During Fetal Development
aINSERM U982, Institute for Biomedical Research and Innovation, University of Rouen, Rouen, France; bDepartment of Pediatrics, University Hospital of Rouen, Rouen, France; cDepartment of Endocrinology, University Hospital of Rouen, Rouen, France
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An Unusual Presentation of Isolated ACTH-Deficiency Secondary to TBX19 Mutation Revealed by Late Onset Hypoglycemia Seizure
aAP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France; bUnité d’Endocrinologie, Gynécologie et Diabétologie Pédiatrique, Hôpital Universitaire Necker-Enfants-Malades, Paris, France; cCRN2M UMR 6231, Faculté de Médecine Nord, Centre National de la Recherche Scientifique, Universite de la Mediterranee, Marseille, France; dUniversité Pierre et Marie Curie-Paris 6, Paris, France; eFaculté de medecine Paris Descartes - Université Sorbonne Paris Cité, Paris, France
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Identification of a Novel Large CYP17A1 Deletion by Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Classic 17-Hydroxylase Deficiency
aSchool of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK; bAntalya Education and Research Hospital, Antalya, Turkey; cMRC-Holland, Amsterdam, The Netherlands
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