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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Late Breaking P1

A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure
aWilliam Harvey Research Institute, Centre for Endocrinology, Queen Mary University London, London, UK; bDepartment of Woman, Child, General and Specialized Surgery at Università egli Studi della Campania ‘L. Vanvitelli’, Naples, Italy
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Abstract unavailable
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Glycemic Impact of Long Term Use of Diazoxide Choline Controlled-Release Tablets in Patients with Prader-Willi Syndrome or with Very High Triglycerides
aDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, California, USA; bDivision of Genetics and Metabolism, Department of Pediatrics, Loma Linda University, Loma Linda, California, USA; cSoleno Therapeutics, Redwood City, California, USA; dDivision of Pediatric Endocrinology, University of Florida, Gainesville, Florida, USA
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An Updated Evolutionary Study in Glucocorticoid Receptors; Insights from a Comprehensive Phylogenetic, SNP's and Mutation's Analysis of the Nuclear Receptors Family: An Updated Evolutionary Study in Glucocorticoid Receptors; Insights from a Comprehensive Phylogenetic, SNP's and Mutation's Analysis of the Nuclear Receptors Family
aDepartment of Informatics and Telecommunications, National and Kapodistrian University of Athens, Athens, Greece; bGenetics and Computational Biology Group, Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece; cDivision of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Greece; dSotiria Chest Diseases Hospital, Athens, Greece; eDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece; fDepartment of Biotechnology, Agricultural University of Athens, Athens, Greece; gFaculty of Natural & Mathematical Sciences, King’s College London, London, UK
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Association between the Use of Antenatal Steroids for Lung Maturation and Hypoglycemia in Newborns Between 26 and 34 6/7 Weeks of Gestation
aIndustrial University of Santander, Bucaramanga, Colombia; bUniversity Hospital of Santander, Bucaramanga, Colombia; cIndustrial University of Santander - Pediatric Endocrinologist, Bucaramanga, Colombia
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Sex Hormone Levels in Young Children: a Pilot Study of the Japan Environment and Children's Study
aMedical Support Center for Japan Environment and Children’s Study, National Center for Child Health and Development, Tokyo, Japan; bProgramme Office for Japan Environment and Children’s Study, National Institute for Environmental Studies, Tsukuba, Japan; cRegional Center for Pilot Study of Japan Environment and Children’s Study, Jichi Medical University, Shimotsuke, Japan; dRegional Center for Pilot Study of Japan Environment and Children’s Study, University of Occupational and Environmental Health, Kitakyushu, Japan; eRegional Center for Pilot Study of Japan Environment and Children’s Study, Kyushu University, Fukuoka, Japan; fRegional Center for Pilot Study of Japan Environment and Children’s Study, Kumamoto University, Kumamoto, Japan
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Mutational Analysis of SRD5A2 and AR Genes in Indian Children with 46 XY Disorders of Sex Development
aAll India Institute of Medical Sciences, Delhi, India; bInstitute of Genomics and Integrative Biology, Delhi, India; cUniversity of Lubeck, Lubeck, Germany
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Pharmacokinetics of Diazoxide Choline Controlled-Release Tablets, a Once Daily Treatment Being Evaluation in Patients with Prader Willi Syndrome
aSeattle Children’s Hospital, University of Washington, Seattle, Washington, USA; bSoleno Therapeutics, Redwood City, California, USA
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Two Siblings with Autosomal Recessive Syndromic Hypopituitarism Caused By Mutations in TBC1D32
aDepartment of Physiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; bChildren’s Hospital, Pediatric Research Center, Helsinki University Central Hospital (HUCH), Helsinki, Finland; cResearch Programs Unit, Molecular Neurology, and Biomedicum Stem Cell Center, University of Helsinki, Helsinki, Finland; dInstitute of Biotechnology, Biocenter 3, University of Helsinki, Helsinki, Finland
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Metabolic Profile in Survivors of Pediatric Hematopoietic Stem Cells Transplantation after Chemotherapy-Only Conditioning
aCarol Davila University of Medicine and Pharmacy, Bucharest, Romania; bFundeni Hospital, Bucharest, Romania; cElias Hospital, Bucharest, Romania
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Disrupting the Norm: The Experience of Young People with DSD
aUniversity of Otago Wellington, Wellington, New Zealand; bIntersex Youth Aoteoroa, Wellington, New Zealand
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Clinical and Endocrine Characteristics and Genetic Analysis of Korean Children with McCune-Albright Syndrome
aDepartment of Pediatrics, Samsung Medical Center, Seoul, Republic of Korea; bDepartment of Pediatrics, Han Yang University Hospital, Seoul, Republic of Korea; cDepartment of Pediatrics, Inha University Hospital, Incheon, Republic of Korea; dDepartment of Laboratory Medicine & Genetics, Samsung Medical Center, Seoul, Republic of Korea; eSungkyunkwan University School of Medicine, Seoul, Republic of Korea; fInha University Graduate School of Medicine, Incheon, Republic of Korea
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Beta-cell Function in Chinese Youngsters with Type 1 Diabetes and Assessment of Surrogate Markers of Severe Insulin Deficiency
aEndocrinology Department, Children’s Hospital, Zhejiang University School of Medicine, Hangzhou, China; bLiggins Institute, University of Auckland, Auckland, New Zealand; cA Better Start – National Science Challenge, University of Auckland, Auckland, New Zealand; dDepartment of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden
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A Novel Compound Heterozygous Mutation of the CYP17A1 Gene is Associated with Rhabdomyolysis: Demonstration of Combining 17[alpha]-hydroxylase/17,20-Lyase Deficiency
aThe First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China; bInstitute of Genetics, College of Life Science, Zhejiang University, Hangzhou, China
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Successful Treatment of Alopecia Totalis with Calcitriol and Paricalcitol in Two Girls Aged 3 and 7-Years
aDepartment of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Marousi, Greece; bDivision of Endocrinology, Diabetes and Metabolism, Medical Department 1, University Hospital, Goethe University, Frankfurt am Main, Germany; cDepartment of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Maroussi, Greece; d3rd Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, Haidari, Greece; eConsultant Dermatologist, Athens, Greece; fEndocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, University of Athens, Athens, Greece
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Protein-Induced Hypoglycemia Secondary to Hyperinsulinism-Hyperammonemia (HI/HA) Syndrome: A GLUD1 Gene Mutation
aUniversity of Illinois, Chicago, Illinois, USA; bRUSH University, Chicago, Illinois, USA
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Characterization and Clinical Course of Prolactinoma in Korean Adolescents
aInha University Hospital, Seoul, Republic of Korea; bDepartment of Pediatrics, Samsung Medical Center, Seoul, Republic of Korea; cDepartment of Neurosurgery, Samsung Medical Center, Seoul, Republic of Korea; dSungkyunkwan University School of Medicine, Seoul, Republic of Korea
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