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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

Free Communications

Adrenals

Transcriptomic Analysis in Healthy Subjects with Differences in Tissue Sensitivity to Glucocorticoids Identifies Novel Disease-associated Genes
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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Steroidogenesis in the Human Fetal Adrenals at the End of the First Trimester
aDepartment of Women’s and Children’s Health, Pediatric Endocrinology Unit, Karolinska Institute & University Hospital, Stockholm, Sweden; bLUNAM Université, École nationale vétérinaire, agroalimentaire et de l’alimentation Nantes-Atlantique (Oniris), Laboratoire d’Étude des Résidus et Contaminants dans les aliments (LABERCA), Nantes, France; cDepartment of Growth and Reproduction, Rigshospitalet, Copenhagen University Hospital, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; dDepartment of Obstetrics and Gynecology, Karolinska Institute & University Hospital, Stockholm, Sweden
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Identification of Novel Central Nervous System Imaging Biomarkers Associated with Cognitive Abnormalities in Patients with Congenital Adrenal Hyperplasia
aInstitute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; bBirmingham Children’s Hospital, Birmingham, UK; cInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK; dInstitute of Psychology, University of Birmingham, Birmingham, UK; eUniversity Hospital Birmingham, Birmingham, UK; fUniversity of Sheffield, Sheffield, UK
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AAV Gene Therapy of 21-Hydroxylase Deficiency (21OHD) in Cyp21−/− mice
aU1169INSERM, Bicêtre, France; bGene Therapy Design, Bicêtre, France; cPediatric Endocrinology, Bicêtre, France
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A Novel Syndrome of IUGR, Congenital Adrenal and Gonadal Insufficiency, Severe Infections, Thrombocytopenia and Monosomy 7 is Caused by SAMD9 Mutations
aUCL Institute of Child Health, London, UK; bCharite, Berlin, Germany; cBelfast City Hospital, Belfast, UK; dAlder Hey Children’s NHS Foundation Trust, Liverpool, UK; eNorthwick Park Hospital, London, UK; fInstitute of Medical Genetics, Cardiff, UK; gUniversity of Pisa, Pisa, Italy; hThe University of Sheffield, Sheffield, UK; iPaediatric Endocrinology, Karlsruhe, Germany
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