ESPE Abstracts

ESPE Abstracts

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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.

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Pituitary, Neuroendocrinology and Puberty Session 2

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Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology
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Growth and Syndromes (to include Turner Syndrome)
Phenotypic Characterization of a Large Pediatric Cohort of Patients with Genetic Forms of Congenital Hypopituitarism
Cionna Cecilia   Cerbone Manuela   Gregory Louise C   Dattani Mehul T  
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
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A Novel Minor Spliceosome Defect Associated with Growth Hormone Deficiency (GHD) and Primary Ovarian Insufficiency (POI)
Akin Leyla   Gregory Louise   Buonocore Federica   Group GOSgene   Kurtoglu Selim   Kendirci Mustafa   Burçin Gonen Z.   Lovell-Badge Robin   Rizzoti Karine   Dattani Mehul  
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
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A Novel Genetic Aetiology for Familial Neonatal Central Diabetes Insipidus
lavi Eran   Sharaf Muna   Abu-Libdeh Abdulsalam   Renbaum Pinchas   Levy-Lahad Ephrat   Zangen David  
1Division of Pediatric Endocrinology, Department of Pediatrics, Hadassah Hebrew University Medical Centre., Jerusalem, Israel. 2Medical Genetics Institute, Shaare Zedek Medical Cente, Jerusalem, Israel
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Whole Exome Sequencing in a Familial Case of Adamantinomatous Craniopharyngioma Revealed Two Hits Affecting Wnt-Signaling Pathway
Gorelyshev Alexander   Mazerkina Nadezhda   Vasilyev Evgeny   Petrov Vasily   Ryzhova Marina   Gorelyshev Sergey   Tiulpakov Anatoly  
1Endocrinology Research Centre, Moscow, Russian Federation. 2NN Burdenko Neurosurgical Institute, Moscow, Russian Federation
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Survival, Endocrine Disorders and Quality of Life in 135 Children with Craniopharyngioma After Surgical or Combined Treatment
Mazerkina Nadia   Savateev Alexandre   Gorelyshev Sergey   Trunin Yuri   Golanov Andrey   Kutin Maxim   Kalinin Pavel   Konovalov Alexandre  
Burdenko Neurosurgery Institute, Moscow, Russian Federation
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Pubertal Timing in Parents is Associated with Timing of Pubertal Milestones in Offspring of Concordant Sex – but Only Inconsistently with Milestones in Offspring of Discordant Sex
Busch Alexander S   Hagen Casper P   Juul Anders  
Rigshospitalet, Copenhagen, Denmark
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