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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Poster Category 2

Growth

BMI Negatively Correlates with GH Response to GH Provocation Testing
aPaediatric Department, Paediatric Endocrinology and Diabetology Unit, University Hospital Leipzig, Leipzig, Germany; bInstitute for Laboratory Medicine Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Leipzig, Germany; cCrescNet, University of Leipzig, Leipzig, Germany
hrp0084p2-446
SHOX Mutation Spectrum in an Unbiased Cohort of 585 Patients Referred for Leri-Weill Dyschondrosteosis or Idiopathic Short Stature
aInstitute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ. CIBERER, ISCIII, Madrid, Spain; bSkeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Universidad Autonóma de Madrid, IdiPAZ, Madrid, Spain; cDepartment of Pediatric Endocrinology, Hospital Universitario La Paz, UAM, Madrid, Spain
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Determination of the Pathogenicity of SHOX P2 Promoter Variants, Identified in Patients with Leri-Weill Dyschondrosteosis or Idiopathic Short Stature
Institute of Medical and Molecular Genetics (INGEMM) and Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Universidad Autonóma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, Spain
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Risk for Non-Alcoholic Fatty Liver Disease in Young Adults Born Preterm
Erasmus MC/Sophia Children’s Hospital, Rotterdam, The Netherlands
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Pharmacokinetics and Efficacy of a Long-Acting Human GH with Fc Fusion Protein
aDepartment of Pediatrics, Myongji Hospital, Goyang, Republic of Korea; bDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; cBiopharmaceutical Research Laboratory, Dong-A Pharm. Co. Ltd., Yongin, Republic of Korea
hrp0084p2-450
SHOX Deficiency: Clinical, Radiological Signs and Value of Screening Scores
aDepartment of Health Sciences, Division of Pediatrics, University of Piemonte Orientale ‘A. Avogadro’, Novara, Italy; bEndocrinology, Department of Translational Medicine, University of Piemonte Orientale ‘A. Avogadro’, Novara, Italy
hrp0084p2-451
Skeletal Dysplasia with Short Stature and a Larsen-Like Phenotype due to a Homozygous Mutation in B3GAT3
aMedical University, Innsbruck, Austria; bInstitute of Medical Genetics, Vienna, Austria
hrp0084p2-452
Growth Pattern in Children Affected of Lowe Syndrome - Descriptive Multicentre International Study: Preliminary Data
aDivision of Pediatric Endocrinology, Hospital Sant Joan de Déu, Barcelona, Spainp; bDivision of Endocrinology, Hospital Vall d’Hebron, Barcelona, Spain; cPediatric Endocrinology, Madrid, Spain; dDivision of Pediatric Endocrinology, Hospital Universitario 12 de Octubre, Madrid, Spain; ewww.rarecommons.org, Hospital Sant Joan de Déu, Esplugues, Barcelona, Spain
hrp0084p2-454
The Effect of Inhaled Glucocorticoid Therapy on Growth Patterns in Pre-Pubertal Children with Asthma Compared to Controls
aDepartment of Pediatrics, University of Chieti, Chieti, Italy; bRiga Stradins University Faculty of Continuing Education, Children’s Clinical University Hospital, Riga, Latvia; cCenter of Excellence on Aging, G. D’Annunzio University Foundation, University of Chieti, Chieti, Italy
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Low Plasma Ghrelin Levels in Children with Severe Protein Energy Malnutrition
Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
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Sleep Apneas in Silver Russell Syndrome: A Constant Finding
aSorbonne Universités, UPMC Univ Paris 06, Paris, France; bAP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France; cAP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Respiratoires, Paris, France; dAP-HP, Hôpital Necker Enfants Malades, Chirurgie Maxillo-faciale et plastique, Paris, France
hrp0084p2-458
Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Leri-Weill Dyschondrosteosis
aInstitute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain; bCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III, Madrid, Spain; cDepartment of Pediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain; dUnidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM-25, Universidade de São Paulo, São Paulo, Brazil; eDepartment of Endocrinology & Nutrition, Hospital Universitario Príncipe de Asturias, Alcalá de Henares, Madrid, Spain; fDepartment of Pediatric Endocrinology, Hospital Marqués de Valdecilla, Santander, Spain
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Individuals with Cow's Milk Allergy are at Risk for not Reaching their Growth Potential
aThe Hebrew University of Jerusalem, Rehovot, Israel; b‘Assaf-Harofeh’ Medical Center, Zerifin, Israel
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French Growth Reference Charts should be Updated
aService d’Endocrinologie, Gynécologie et Diabétologie Pédiatriques, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; bCentre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; cDépartement de Biostatistique, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; dUnité de Recherche Clinique/Centre d’Investigation Clinique, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; eDépartement de santé scolaire, DASES, Paris, France, fINSERM U1016, IMAGINE Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France
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Advanced Bone Age and Accelerated Dental Development Associated with Elevated Retinoic Acid Levels and Haploinsufficiency of CYP26A1 and CYP26C1
aKarolinska Institutet, Stockholm, Sweden; bUniversity of Washington, Seattle, WA, USA; cOregon Health and Science University, Portland, OR, USA; dNICHD, National Institutes of Health, Bethesda, MD, USA; eHarvard Medical School, Boston, MA, USA; fCincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
hrp0084p2-462
Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect?
aCentro de Investigaciones Endocrinológicas ‘Dr. César Bergadá’ (CEDIE) CONICET – FEI – División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; bServicio de Huellas Digitales Genéticas, Facultad de Farmacia y Bioquímica, UBA – CONICET, Buenos Aires, Argentina; cDivision of Pediatric Endocrinology, Federeal University of Sao Paulo, UNIFESP/EPM, Sao Paulo, Brazil
hrp0084p2-463
Making Adult Height Prediction Complete: Forecasting the Age of the Growth Spurt and the Height and Velocity Trajectories Until Adulthood
aTübingen University Children’s Hospital, Tübingen, Germany; bVisiana, Holt, Denmark; cFilderklinik, Filderstadt, Germany; dLamdasoft, Copenhagen, Denmark; eChild Development Center, University Children’s Hospital, Zurich, Switzerland
hrp0084p2-465
Whole Exome Sequencing Identifies De Novo HRAS Mutation Underlying Primary IGF1 Deficiency (PIGFD)
aDepartment of Genomics Life and Brain Center, Institute of Human Genetics, Bonn, Germany; bDepartment of Neonatology, Children’s Hospital, Bonn, Germany; cDepartment of Clinical Chemistry and Pharmacology, Bonn, Germany; dPediatric Practice, Hannover, Germany; ePediatric Endocrinology Division, University of Bonn, Bonn, Germany
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Clinical and Biochemical Characteristics of a Female Patient with a Novel Homozygous STAT5B Mutation but Lack of Pulmonary Disease
aDepartment of Pediatric Endocrinology, Tepecik Training and Research Hospital, Izmir, Turkey; bDepartment of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA; cDepartment of Clinical Genetics, Leiden University Center, Leiden, The Netherlands; dDepartment of Clinical Genetics, Tepecik Training Research Hospital, Izmir, Turkey; eDepartment of Immunology, Faculty of Medicine, Ege University, Izmir, Turkey; fDepartment of Immunology, Faculty of Medicine, Katip Celebi University, Izmir, Turkey; gDepartment of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
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Novel Heterozygous ACAN Mutations in Short Stature: Expanding the Clinical Spectrum
aHospital Universitario Infanta Leonor, Madrid, Spain; bInstitute of Medical and Molecular Genetics (INGEMM and UMDE), IdiPAZ, Hospital Universitario la Paz, UAM, Madrid, Spain; cCIBERER, ISCIII, Madrid, Spain; dConsorci Sanitari de Terrasa, Terrasa, Spain
hrp0084p2-468
Major Improvement in Parental Perception of their Children's Height-Specific Quality of Life after 1 Year of GH Treatment: Our Experience with the QoLiSSY Questionnaire
aAP-HP, Hôpital Universitaire Necker Enfants Malades, Endocrinologie, gynécologie et diabétologie pédiatrique, Université Paris Descartes, Institut IMAGINE (affiliate), Paris, France; bESPE Clinical Fellowship, Paris, France; cCentre de référence des maladies endocriniennes rares de la croissance (CRMERC), Paris, France
hrp0084p2-469
Hypomethylation within the Imprinted Dlk1 - Dio3 Domain: a Potential Regulatory Mechanism of Pre and Postnatal Growth
aGirona Institute for Biomedical Research, Girona, Spain; bDr. JosepTrueta Hospital, Girona, Spain; cEUSES University School, Girona, Spain; dUniversity of Leuven, Leuven, Belgium; eHospital Sant Joan de Déu, Barcelona, Spain; fInstitut de Génétique Moléculaire de Montpellier, Montpellier, France
hrp0084p2-470
Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study
aBirmingham Children’s Hospital, Birmingham, UK; bGreat Ormond Street Hospital, London, UK; cHull Royal Infirmary, Hull, UK; dAlderhey Children’s Hospital, Liverpool, UK; eKing’s College Hospital, London, UK; fUniversity of Birmingham, Birmingham, UK; gAddenbrookes Hospital, Cambridge, UK
hrp0084p2-471
Characterisation of Partial SHOX Deletions/Duplications Reveals Intron 3 to be a Hotspot Region
Institute of Medical and Molecular Genetics (INGEMM) and Skeletal Dysplasia Multidisciplinary Unit (UMDE), Hospital Universitario La Paz, Universidad Autonóma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, Spain
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The Pubertal Gain in Height is Inversely Related to BMI in Childhood
aDepartment of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, Göteborg Pediatric Growth Research Center, University of Gothenburg, Gothenburg, Sweden; bDepartment of Pediatrics, Halmstad County Hospital, Halmstad, Sweden; cMuvara bv, Multivariate Analysis of Research Data, Leiderdorp, The Netherlands; dAngered Hospital, Gothenburg, Sweden; eDepartment of Food and Nutrition, and Sport Science, University of Gothenburg, Gothenburg, Sweden; fDepartment of Public Health and Community Medicine, Institute of Medicine, The Sahlgrenska Academy of Gothenburg, Gothenburg, Gothenburg, Sweden; gDepartment of Physiology/Endocrinology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
hrp0084p2-473
Growth Curves for Height, Weight, BMI and Head Circumference in Children with Achondroplasia
aDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; bPaediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden; cUniversity of Southern Denmark, Odense, Denmark; dOdense University Hospital, Odense, Denmark
hrp0084p2-474
Growth Hormone Deficiency and Pituitary Dysgenesis in a Girl with Microdeletion 2q31.1
aKinderkrankenhaus Wilhelmstift, Hamburg, Germany; bInstitut für Humangenetik, Universität zu Lübeck, Lübeck, Germany
hrp0084p2-475
One Year Screening Program for Stature Deviations - Strategy and Outcome
aMU of Varna, Varna, Bulgaria; b”Varna Paediatric Endocrine Society (VAPES)”, Varna, Bulgaria
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BASIC: Bone Age Study in Children
aSheffield University, Sheffield, UK; bSheffield CHildren’s Hospital, Sheffield, UK
hrp0084p2-477
Comparison of the Turkish Growth Standards with the Who Standards
aDepartment of Pediatric Endocrinology, Istanbul University Faculty of Medicine, Istanbul, Turkey; bBogazici University, Institute of Environmental Sciences, Istanbul, Turkey; cIstanbul University, Institute of Child Health, Istanbul, Turkey
hrp0084p2-478
Moya Moya Syndrome in a Patient with Growth Hormone Deficiency and Hypergonadotropic Hypogonadism: to Treat or not to Treat with Growth Hormone Therapy?
aAP-HP Hôpital Universitaire Necker - Enfants Malades, Endocrinologie, gynécologie et diabétologie pédiatrique, Université Paris Descartes, IMAGINE affiliate, Paris, France; bAP-HP Hôpital Universitaire Pitié-Salpétrière, Endocrinologie et médecine de la reproduction, Université Pierre et Marie Curie, Paris, France; cCentre de référence des maladies endocriniennes rares de la croissance (CEMARA), Paris, France
hrp0084p2-479
In Vitro Functional Characterization Of IGFALS Gene Variants Found In ALS Deficient or Idiopathic Short Stature (ISS) Children
Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE) CONICET – FEI – División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
hrp0084p2-480
Childhood Growth of Boys with Congenital Hypogonadotropic Hypogonadism
aChildren’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; bUniversity of Helsinki, Department of Physiology, Helsinki, Finland; cDepartment of Growth and Reproduction, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; dBSCC & Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
hrp0084p2-482
Hypermethylation at the Imprinted C19mc Microrna Cluster: A New Link between Maternal Metabolism and Infant's Growth
aGirona Institute for Biomedical Research, Girona, Spain; bDr.JosepTrueta Hospital, Girona, Spain; cEUSES University School, Girona, Spain; dUniversity of Leuven, Leuven, Belgium; eHospital Sant Joan de Déu, Barcelona, Spain; fInstitut de Génétique Moléculaire de Montpellier, Montpellier, France
hrp0084p2-483