ESPE Abstracts

ESPE Abstracts

Published by BioScientifica
Previous issue | Volume 92 | ESPE2019

58th Annual ESPE meeting

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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Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

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Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia)
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Pituitary, Neuroendocrinology and Puberty Session 2
Investigating the Roles of Androgens in Male Reproductive Development, Maintenance and Function by Characterisation of Androgen and Cortisol Deficient 11ß-Hydroxylase Mutant Zebrafish Lines
Oakes James A   Storbeck Karl-Heinz   Cunliffe Vincent T   Krone Nils P  
1University of Sheffield, Sheffield, United Kingdom. 2Stellenbosch University,, Stellenbosch, South Africa. 3Technische Universität Dresden, Dresden, Germany
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The Fruit Fly, Drosophila Melanogaster, as a Model to Elucidate Human Differences of Sex Development (DSD)
Mercadé Ivan Domènech   Sotillos Sol   Gutiérrez Daniel Rodríguez   Nef Serge   Hombría James C-G   Biason-Lauber Anna  
1Endocrinology division, Section of Medicine, University of Fribourg, Fribourg, Switzerland. 2Centro Andaluz de Biología del Desarrollo (CABD), CSIC/JA/University Pablo de Olavide, Seville, Spain. 3Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
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Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome
McElreavey Ken   Jorgensen Anne   Eozenou Caroline   Merel Tiphanie   Bignon-Topalovic Joelle   Tan Daisy   Houzelstein Denis   Buonocore Federica   Warr Nigel   Kay Raissa   Peycelon Mathieu   Siffroi Jean-Pierre   Mazen Inas   Achermann John   Shcherbak Yuliya   Leger Julienne   Sallai Agnes   Carel Jean-Claude   Martinerie Laetitia   Le Ru Romain   Conway Gerald   Mignot Brigitte   Van Maldergem Lionel   Bertalan Rita   Globa Evgenia   Brauner Raja   Jauch Ralf   Nef Serge   Greenfield Andy   Bashamboo Anu  
1Institut Pasteur, Paris, France. 2Rigshospitalet, Copenhagen, Denmark. 3University of Hong Kong, Hong Kong, Hong Kong. 4UCL GOS Institute of Child Health, London, United Kingdom. 5Medical Research Council Harwell Institute, Oxfordshire, United Kingdom. 6Sorbonne Université, Paris, France. 7National Research Center, Cairo, Egypt. 8National Hospital OHMATDYT, Kyiv, Ukraine. 9Hospital Robert Debre, Paris, France. 10Semmelweis University, Budapest, Hungary. 11University of Franche-Comté, Besancon, France. 12Ukrainian Center of Endocrine Surgery, Endocrine Organs and Tissue Transplantation, MoH of Ukraine, Kyiv, Ukraine. 13Fondation Ophtalmologique Adolphe de Rothschild, Paris, France. 14University of Geneva, Geneva, Switzerland
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Loss-Of-Function and Missense Mutations in MYRF are a Novel Cause of Autosomal Dominant 46,XY Leydig Cell Hypoplasia and 46,XY Gonadal Dysgenesis
McElreavey Ken   Globa Evgenia   Bertalan Rita   Bignon-Topalovic Joelle   Brauner Raja   Bashamboo Anu  
1Institut Pasteur, Paris, France. 2Ukrainian Center of Endocrine Surgery, Endocrine Organs and Tissue Transplantation, Ministry of Health of Ukraine, Kyiv, Ukraine. 3Semmelweis University, Budapest, Hungary. 4Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
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Transcriptome Analysis of Novel Sertoli Cell Models to Highlight Potential Genes Involved in DSD Mechanism of Disease
Gutiérrez Daniel Rodríguez   Sproll Patrick   Biason-Lauber Anna  
University of Fribourg, Fribourg, Switzerland
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Evaluation of Basal and GNRH-stimulated AMH Levels in Central Precocious Puberty, Peripheral Precocious Puberty and Premature Thelarche
Sahin Nursel Muratoglu   Yilmaz Aslihan Arasli   Erdeve Senay Savas   Cetinkaya Semra   Aycan Zehra  
Health Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease, Health Implementation and Research Center, Ankara, Turkey
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