Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

Card image cap
Dublin, Ireland; 18-20 September 2014. Further information

Poster Presentations

Perinatal and Neonatal Endocrinology

A Girl with Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B, a Unique Example of Multiple Imprinting Defects
aReinier de Graaf Hospital, Delft, The Netherlands; bLeiden University Medical Center, Leiden, The Netherlands
hrp0082p1-d1-173
Use of Long Acting Somatostatin Analogue (Lanreotide) in Congenital Hyperinsulinism
aGreat Ormond Street Hospital for Children NHS Trust, London, UK; bInstitute of Child Health, University College London, London, UK; cKymos Pharma Services, S.L., Barcelona, Spain
hrp0082p1-d1-174
The Role of mTORC1/RagGTPase and IGF1R/mTORC2/Akt Pathways and the Response of Diffuse Congenital Hyperinsulinism to Sirolimus
aGreat Ormond Street Hospital, London, UK; bUniversity of Exeter Medical School, Exeter, UK; cThe University of Texas Health Science Center, Houston, Texas, USA; dUCL Institute of Child Health, London, UK; eAlder Hey Children’s Hospital, Liverpool, UK
hrp0082p1-d1-175
A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties
aGastroenterology Unit, Division of Pediatrics, Hadassah University Medical Center, Jerusalem, Israel; bDepartment of Anatomy and Neurobiology, University of Maryland–Baltimore, Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children’s Hospital and the David Geffen School of, California, USA; cDivision of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children’s Hospital and the David Geffen School of Medicine, University of California Los Angeles, California, USA; dEndocrinology Unit, Division of Pediatrics, Hadassah Hebrew University Medical Center, Jerusalem, Israel; eNeurology Unit, Division of Pediatrics, Hadassah University Medical Center, Jerusalem, Israel; fMonique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
hrp0082p1-d1-176
Variations in Protein Expression in Small-For-Gestational-Age Newborns
aUnidad de Neonatología, Hospital Universitario Reina Sofía, IMIBIC, Córdoba, Spain; bGrupo PAIDI CTS-329, IMIBIC, Córdoba, Spain; cZBS Alcolea, Córdoba, Spain; dDepartamento de Bioquímica y Biología Molecular, Universidad de Córdoba, Córdoba, Spain; eUnidad de Endocrinología Pediátrica, Hospital Universitario Reina Sofía, IMIBIC, Córdoba, Spain
hrp0082p1-d1-179
Long-Term Cognitive Effects from Dexamethasone-Treated Pregnancies
aTyumen Regional Clinic, Tyumen, Russia; bTyumen State Medical Academy, Tyumen, Russia
hrp0082p1-d1-180
The Prevalence and Outcome of Sex Chromosome Abnormalities Detected Prenatally in Scotland
aDepartment of Child Health, Royal Hospital for Sick Children, Glasgow, UK; bDepartment of Clinical Genetics, Southern General Hospital, Glasgow, UK; cDepartment of Clinical Genetics, Grampain, UK
hrp0082p1-d1-181
Clinical and Histological Heterogeneity of Congenital Hyperinsulinism Due to Paternally Inherited Heterozygous ABCC8/KCNJ11 Mutations
aClinical and Medical Genetics Unit, UCL Institute of Child Health, London, UK; bLondon Centre for Paediatric Endocrinology, Great Ormond Street Hospital NHS Foundation Trust, London, UK; cInstitute of Biomedical and Clinical Sciences, University of Exeter Medical School, Exeter, UK
hrp0082p1-d1-182
Molecular Genetic Analysis of Czech Patients with Congenital Hyperinsulinism: Surprisingly High Incidence of HNF1A Mutations
aDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic; bDepartment of Pediatrics, 1st Faculty of Medicine, Charles University in Prague and the General University Hospital in Prague, Prague, Czech Republic; cThird Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
hrp0082p1-d1-183
Very Low Birth Weight [lt]1500 g is Associated with Reduced Sex-Typical Behaviour in Childhood
aKuopio University Hospital, Kuopio, Finland; bUniversity of Cambridge, Cambridge, UK.
hrp0082p1-d1-184