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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.

Rapid Free Communications

Pituitary, Neuroendocrinology and Puberty Session 1

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis
1Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. 2Sorbonne Université, INSERM, UMRS 938, Centre de Recherche Saint-Antoine, Paris, France. 3AP-HP, Hôpital Trousseau, Service d'Explorations Fonctionelles Endocriniennes, Paris, France
Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene
1Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. 2Cyprus School of Molecular Medicine, Nicosia, Cyprus. 3Department of Pediatric Endocrinology, Paedi Center for specialized Pediatrics, Nicosia, Cyprus. 4Department of Pediatrics, Iasis Hospital, Paphos, Cyprus. 5Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Glasgow, United Kingdom
Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes
1Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brazil. 2Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil. 3Laboratorio de Hormonios e Genetica Molecular (LIM/42), Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, FMUSP, Sao Paulo, Brazil. 4Unidade de Genetica, Instituto da Crianca, FMUSP, Sao Paulo, Brazil
CHD7 Mutations in Patients with Anosmic or Normosmic Idiopathic Hypogonadotropic Hypogonadism
1Cukurova University, Faculty of Medicine, Division of Pediatric Endocrinology, Adana, Turkey. 2Adnan Menderes University, Faculty of Medicine, Department of Pediatric Endocrinology, Aydin, Turkey. 3Department of Pediatrics, Division of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training Hospital, Ankara, Turkey. 4Sanliurfa Training and Research Hospital, Clinic of Pediatric Endocrinology, Sanliurfa, Turkey. 5Department of Endocrinology and Metabolism, Antakya State Hospital, Hatay, Turkey. 6Pediatric Endocrinology, Samsun Obsteric and Children Hospital, Samsun, Turkey. 7Marmara University, Division of Pediatric Endocrinology, Istanbul, Turkey. 8Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Gazi Yasargil Training and Research Hospital, Diyarbakir, Turkey. 9University of Mississippi Medical Center, Department of Pediatrics, Division of Pediatric Endocrinology and Department of Neurobiology and Anatomical Sciences, Mississippi, USA