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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

Growth & Syndromes P3

Is Growth Hormone Deficiency a Contributor to Short Stature in Cutis Laxa Syndrome?
aCarol Davila University of Medicine and Pharmacy, Bucharest, Romania; bElias Hospital, Bucharest, Romania
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Two Siblings with Alstrom Syndrome
aIstanbul Bilim University, Department of Paediatrics, Divison of Paediatric Endocrinology, Istanbul, Turkey; bBezmialem Vakıf University, Department of Medical Genetics, Istanbul, Turkey; cPrivate Paediatric Neurology Clinic, Istanbul, Turkey
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Development of an Online Learn-pro Module to Support Health Care Professionals Knowledge about Growth and Puberty
aRoyal Hospital Sick Children – NHS Lothain, Edinburgh, UK; bNHS Greater Glasgow & Clyde, Glasgow, UK; cNHS Forth Valley, Stirling, UK
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Coeliac Disease in Turner Syndrome More Frequent Than Expected
aPierre and Marie Curie Center, Algiers, Algeria; bBeni messous Hospital, Algiers, Algeria
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A 14-Year-Old Boy with Simpson-Golabi-Behmel Syndrome - Case Report
aDepartment of Pediatrics, Endocrinology, Diabetes with the Cardiology Division, Medical University in Białystok, Białystok, Poland; bDepartament of Paediatric Neurology and Rehabilitation. Medical University in Białystok, Białystok, Poland; cDepartment of Pediatrics Endocrinology, Diabetes with the Cardiology Division. Medical University in Białystok, Białystok, Poland
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Central Precocious Puberty in a Girl with Silver Russell Syndrome
aDepartment of Endocrinology and Diabetology for Children and Adolescents Medical University, Wroclaw, Poland; bDepartment of Endocrinology and Diabetology for Children and Adolescents University of Medicine, Wroclaw, Poland
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Etiologies of Short Stature in Pedaitric Endocrine Clinic in Northwest Region (Trakya) of Turkey
aDepartment of Pediatric Endocrinology, Trakya University Medical Faculty, Edirne, Turkey; bDepartment of Pediatric Endocrinology, University of Health Sciences, Okmeydani Training & Research Hospital, İstanbul, Turkey
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A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review
aDepartment of Endocrinology, Genetics and Metablism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China; bGenetic and Metabolic Center Laboratory, Maternal and Child Health Hospital of Guanxi Zhuang Autonomous Region, Nanning, Guangxi, China; cShanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China; dDivision of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, USA
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A Long Follow-up in a Young Patient with Atypical Progeroid Syndrome
aRare Diseases and Auxological Unit, Department of Pediatrics, Sant’Orsola-Malpighi Hospital, University of Bologna, Italy, Bologna, Italy; bCNR Institute of Molecular Genetics, Unit of Bologna, Bologna, Italy
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Hepatic Glycogen Synthasedeficiency Associated with Growth Hormone Deficiency: A Case Report
aAtaturk University Faculty of Medicine Department of Pediatric Endocrinology, Erzurum, Turkey; bAtaturk University, Faculty of Medicine Department of Pediatrics, Erzurum, Turkey
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Analysis of Genetic Mutations in a Chinese Patient Affected with Noonan Syndrome
aDepartment of Endocrinology, Metabolism, and Genetics, Jiangxi Provincial Children’s Hospital, Nanchang, China; bCentral laboratory, Jiangxi Provincial Children’s Hospital, Nanchang, China
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A Novel Homozygous Mutation in ERCC8 Cause Cockayne Syndrome a in a Chinese Family
aDepartment of Endocrinology, Metabolism, and Genetics, Jiangxi Provincial Children’s Hospital, Nanchang, China; bCentral laboratory, Jiangxi Provincial Children’s Hospital, Nanchang, China
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Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy
aHacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, Turkey; bHacettepe University Faculty of Medicine, Department of Paediatric Nephrology, Ankara, Turkey; cHacettepe University Faculty of Medicine, Department of Genetics, Ankara, Turkey; dHacettepe University Faculty of Medicine, Department of Paediatrics, Ankara, Turkey
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Hypothyroidism and Growth Hormone (GH) Deficiency, a Spotlight on De Novo Chromosomal 20p11.2 Deletion
Department of Pediatric Medicine, Division of Endocrinology, Sidra Medicine Center, Doha, Qatar
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Pharmacoeconomic and Adherence Analysis in Growth Hormone According to Galenic Presentation: In Vivo Study vs In Vitro
aPeadiatric Endocrinology - HU Araba, Vitoria, Spain; bDepartament Peadiatric - Basque Country University - UPV/EHU, Vitoria, Spain; cFarmacology Departamet HU Araba, Vitoria, Spain
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The Expression of Cytokines in SGA Children Throughout Lactation Allows to Characterize Early the Type of Cath-up
aPeadiatric Endocrinology - HU Araba, Vitoria, Spain; bDepartament Peadiatric - Basque Country University - UPV/EHU, Vitoria, Spain; cNutricion Depertament of UPV, Vitoria, Spain; dNutrion Departament of UPV, Vitoria, Spain; eDerpartament of Nutricion UPV, Vitoria, Spain
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Small Stature: A Singular Difference for Accessing to Job
aPeadiatric Endocrinology – HU Araba, Vitoria, Spain; bDepartament Peadiatric - Basque Country University - UPV/EHU, Vitoria, Spain; cH Nuestra Señora de Meritxell, Andorra, Andorra
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A Case of Hutchinson-Gilford Progeria Syndrome (HGPS) due to a Pathogenic LMNA Variant c.433G>A (p.Glu145Lys): Growth Hormone Administration Failed to Improve Growth and Long-term Outcome
aDepartment of Paediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic; bDepartment of Paediatrics, Faculty of Medicine, Masaryk University and University Hospital, Brno, Czech Republic
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Increased Serum Activity of Liver Aminotransferases in Young Patients with Turner Syndrome
aDepartment of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University Medical College, Krakow, Poland; bDepartment of Clinical Biochemistry, Pediatric Institute, Jagiellonian University Medical College, Krakow, Poland
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Terner Syndrome: Epidemiological Study in Uzbekistan
Institute of Bioorganic Chemistry of the Academy of Sciences of Republic Uzbekistan, Tashkent, Uzbekistan.
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Shox Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data
University Department Pro.Sa.M.I. ‘G. D’Alessandro’, University of Palermo, Palermo, Italy
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Microduplication of 3p25.3 and 4p23 Regions in a Patient with Multiple Congenital Anomalies, Congenital Hypothyroidism and Adrenogenital Syndrome
aASP Cosenza, Cetraro, Italy; bUniversità Magna Graecia, Catanzaro, Italy; cGenetica Medica - Azienda Ospedaliero - Universitaria ‘Mater Domini’, Catanzaro, Italy
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A Rare Chromosomal Disorder, Trisomy 4p
aErciyes Unıversity Pediatric Endocrinology, Kayseri, Turkey; bRciyes Unıversity Pediatric Endocrinology, Kayseri, Turkey; cMemorial Hospital Pediatric Endocrinology, Kayseri, Turkey
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Prediction of Response to Growth Hormone Treatment in Korean Girls with Turner Syndrome
aDepartment of pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Republic of Korea; bDepartment of Pediatrics, Bundang Jeseang General Hospital, Daejin Medical Center, Seongnam, Republic of Korea; cDepartment of Pediatrics, Inha University Hospital, Inha University Graduate School of Medicine, Incheon, Republic of Korea; dDepartment of Pediatrics, Ewha Womans University School of Medicine, Seoul, Republic of Korea; eDepartment of Pediatrics, Dankook University Hospital, Cheonan, Republic of Korea
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A Rare Case of Turner Syndrome with the Presence of the Y Chromosome Genetic Material
a2nd City Children’s Clinical Hospital, Minsk, Belarus; bBelarusian State Medical University, Minsk, Belarus
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Mosaicism 47XXX/45X0, a Case Report
aFederal University of Goiás, Professor of Pediatrics, Goiânia, Brazil; bPontifical Catholic University of Goiás, Department of Biology, Replicon Research Group, Goiânia, Brazil; cFederal University of Goiás, Health Science PhD Program, Goiânia, Brazil; dFederal University of Goias, Biotechnology and Biodiversity PhD Program, Goiânia, Brazil
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Woodhouse-Sakati Syndrome: Clinical and Molecular Study on a Qatari Family with C2orf37 Gene Mutation
Department of Pediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar
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Factors Affecting Height Velocity in Normal Prepubertal Children
Department of Pediactrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea
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Growth Response in Noonan Syndrome in Indian Children
Indraprastha Apollo Hospital, Delhi, India
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Late Referral of Siblings with Combined Pituitary Hormone Deficiency (PROP1)
Division for Childrens’ Health, Pediatric Clinic 1, Clinical Center University of Sarajevo, Sarajevo, Bosnia and Herzegovina
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17p13.1 Microduplication Syndrome in a Child with Familial Short Stature and GH Deficiency: A Short Case Report
aDivision of Endocrinology – Growth and Develpment, ‘P.A. Kyriakou’ Children’s Hospital, Athens, Greece; bATG-Access to GENOME Laboratories, Athens, Greece; cDivision of Biochemistry and Hormonology ‘P.A. Kyriakou’ Children’s Hospital, Athens, Greece; dDivision of Developmental Disabilities, ‘P.A. Kyriakou’ Children’s Hospital, Athens, Greece
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Prader Willi Syndrome: Clinical Profile
Sir Ganga Ram Hospital, New Delhi, India
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Leri-Weill Syndrome Phenotype with Atypical Cytogenetic Finding
aMedical University, Department of Paediatrics, Varna, Bulgaria; bUMHAT ‘Sveta Marina’, First Paediatric Clinic, Varna, Bulgaria; cMedical University, Department of Medical Genetics, Varna, Bulgaria; dUMHAT ‘Sveta Marina’, Department of Medical Genetics, Varna, Bulgaria; eUMHAT ‘Sveta Marina’, Second Paediatric Clinic, Varna, Bulgaria
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Deletion of 12q12 Increases the Risk of Growth Retardation and Intellectual Disability
Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China
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A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia
aShanghai Children’s Medical Center, Shanghai, China; bBoston Children’s Hospital, Boston, USA
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Congenital Tufting Enteropathy Caused by Mutation of EPCAM Gene: A Case Report and Review of Literature
West China Second Hospital Sichuan University, Chengdu, China
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Two Siblings with Prader-Willi Syndrome Caused by Microdeletion Derived from the Paternal Grandmother
The Children’s Hospital of Zhejiang University School of Medicine, Hangzhou, China
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Novel Mutation of CHD7 in a Chinese Boy with Kallmann Syndrome
Children’S Hospital, Zhejiang University School of Medicine, Hangzhou, China
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Conversion of Hypothyroidism to Hyperthyroidism in Children
Ju Li  
Children’s Hospital, Zhejiang University School of Medicine, Hangzhou, China
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Case Report: Novel ACAN Mutation in a SGA Short Stature without Accelerated Skeletal Maturation
aCHA Medical University, Seoul, Republic of Korea; bUlsan University Hospital, Ulsan, Republic of Korea
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