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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Free Communications

Pituitary, Neuroendocrinology and Puberty Session 2

Phenotypic Characterization of a Large Pediatric Cohort of Patients with Genetic Forms of Congenital Hypopituitarism
1London Centre for Paediatric Endocrinology and Diabetes at Great Ormond Street Children's Hospital and University College London Hospitals, London, United Kingdom. 2Department of Pediatrics, Marche Polytechnic University, Ancona, Italy. 3Genetics and Genomic Medicine Programme, University College London Great Ormond Street Hospital Institute of Child Health, London, United Kingdom
A Novel Minor Spliceosome Defect Associated with Growth Hormone Deficiency (GHD) and Primary Ovarian Insufficiency (POI)
1Erciyes University Faculty of Medicine Department of Pediatric Endocrinology, KAYSERI, Turkey. 2Genetics and Genomic Medicine Programme UCL Great Ormond Street Institute of Child Health, LONDON, United Kingdom. 3Erciyes University Genome and Stem Cell Center, KAYSERI, Turkey. 4The Francis Crick Institute, LONDON, United Kingdom. 5Great Ormond Street Hospital for Children, LONDON, United Kingdom
A Novel Genetic Aetiology for Familial Neonatal Central Diabetes Insipidus
1Division of Pediatric Endocrinology, Department of Pediatrics, Hadassah Hebrew University Medical Centre., Jerusalem, Israel. 2Medical Genetics Institute, Shaare Zedek Medical Cente, Jerusalem, Israel
Whole Exome Sequencing in a Familial Case of Adamantinomatous Craniopharyngioma Revealed Two Hits Affecting Wnt-Signaling Pathway
1Endocrinology Research Centre, Moscow, Russian Federation. 2NN Burdenko Neurosurgical Institute, Moscow, Russian Federation