Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 2

Growth and syndromes (to include Turner syndrome)

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A
1Istanbul University, Istanbul Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey; 2Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
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Effects of growth hormone therapy on serum concentrations of IGF-1 in patients with Turner syndrome: High IGF-1 concentrations despite optimal dose?
1Istanbul University, Istanbul Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, Istanbul, Turkey; 2Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Istanbul, Turkey; 3Intergen Genetic Diagnosis and Research Centre, Ankara, Turkey
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Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status
1Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil; 2Novo Nordisk Health Care AG, Zürich, Switzerland; 3Novo Nordisk Inc., Plainsboro, NJ, USA; 4National Center for Child Health and Development, Tokyo, Japan
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Endocrinological assessment in patients with fanconi anemia
1Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute "La Princesa", Madrid, Spain; 2Universidad Autónoma de Madrid, Department of Pediatrics, Madrid, Spain; 3Hospital Infantil Universitario Niño Jesús, Department of Hematoncology and Bone Marrow Transplant, Madrid, Spain; 4Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain; 5IMDEA, Food Institute, CEIUAM+CSI, Madrid, Spain
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Brain-derived neurotrophic factor and matrix metalloproteinases as markers of metabolic status in girls with Turner syndrome.
1Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland; 2Student Scientific Society, Department of Biophysics, Jagiellonian University Medical College, Kraków, Poland; 3Department of Biochemistry, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland
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Assessment of genetic defects, baseline characteristics and adverse events reported in the Increlex® registry
1Hôpital Universitaire Necker Enfants Malades, AP-HP, Université de Paris, Paris, France; 2Faculty of Health Sciences, Linköping University, Linköping, Sweden; 3Ipsen Pharma, Boulogne-Billancourt, France; 4William Harvey Research Institute, Queen Mary University of London, London, United Kingdom; 5Children’s Hospital, University of Erlangen, Erlangen, Germany
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Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia
1Guy’s and St. Thomas’ NHS Foundation Trust, Evelina Children’s Hospital, London, United Kingdom; 2Murdoch Children’s Research Institute, Royal Children’s Hospital, and University of Melbourne, Parkville, Australia; 3Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom; 4Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, USA; 5Otto-von-Guericke-Universität, Magdeburg, Germany; 6Osaka University Hospital, Osaka, Japan; 7BioMarin (U.K.) Limited, London, United Kingdom
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COVID 19 impact on Pediatric Endocrinology care - a short story from Romania
"George Emil Palade" University of Medicine, Pharmacy, Sciences and Technology of Targu-Mures, Targu-Mures, Romania
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Single nucleotide variations associated with short stature in Baka Pygmies as identified by Whole Exome Sequence (WES)
1University of Pavia, Pavia, Italy; 2Center for Transitional Genomics and Bioinformatics IRCCS San Raffaele Scientific Institute, Milan, Italy; 3Department of Biology and Biotechnology “Lazzaro Spallanzani”, University of Pavia, Pavia, Italy; 4Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands
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Novel LZTR1 mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH in vitro
1Centre for Endocrinology, William Harvey Research Institute, Queen Mary University London, London, United Kingdom; 2Department of Genetics, Children’s Institute, Faculty of Medicine, University of Sao Paulo, São Paulo, Brazil; 3Department of Paediatric Diabetes and Endocrinology, Sandwell and West Birmingham NHS Trust, Birmingham, United Kingdom
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Comorbidities in Turner Syndrome patients controlled in our center since the 80’s
1Pediatric Endocrine Department, Parc Taulí Hospital Universitari, Institut de Recerca i Innovació I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain; 2Parc Taulí Hospital Universitari, Institut de Recerca i Innovació I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain; 3Genetics Department, Parc Taulí Hospital Universitari, Institut de Recerca i Innovació I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain; 4Gynecology and Obstetrics Department, Parc Taulí Hospital Universitari, Institut de Recerca i Innovació I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain
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Familial Mosaic Turner Syndrome with short stature and spontaneous puberty due to a ring X chromosome with distal Xp22.3 and distal Xq26 deletion
1Paediatric Department, Broomfield Hospital, MSE NHS Trust, Chelmsford, United Kingdom; 2Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, United Kingdom; 3Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom; 4William Harvey Research Institute, Queen Mary, University of London, London, United Kingdom; 5Royal London Children’s Hospital, Barts Health NHS Trust, London, United Kingdom
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Linear growth response to growth hormone therapy in underweight versus normal-weight children with idiopathic short stature (ISS)
1Department of Pediatrics, University of Alexandria, Alexandria, Egypt; 2Hamad General Hospital, Doha, Qatar.
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Timing of infancy-childhood growth spurt in healthy Turkish children
1Istanbul University Cerrahpasa, Pediatrics, Istanbul, Turkey; 2Istanbul University Cerrahpasa, Pediatric Endocrinology, Istanbul, Turkey; 3Technical University Munich, Munich, Germany; 4Istanbul University Cerrahpasa, Social Pediatrics, Istanbul, Turkey
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The spectrum of the Prader-Willi-like pheno- and genotype
1Dutch Growth Research Foundation, Rotterdam, Netherlands; 2National Reference Center for Prader-Willi Syndrome and Prader-Willi-like, Rotterdam, Netherlands; 3Erasmus Medical Center, Rotterdam, Netherlands
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An Italian survey on GH stimulation tests and their adverse side effects.
1Università degli Studi dell’Insubria, VARESE, Italy; 2Università degli Studi di Messina, MESSINA, Italy; 3Università degli Studi di Padova, PADOVA, Italy; 4Università degli Studi di Pavia, PAVIA, Italy; 5Divisione di Pediatria, Ospedale "F.Ferrari", Casarano, CASARANO (LE), Italy; 6Università degli Studi di Catania, CATANIA, Italy; 7Clinica Pediatrica, Az.Osp. Univ. Integrata, VERONA, Italy; 8Divisione di Diabetologia Pediatrica, Ospedale "Salesi", ANCONA, Italy; 9Ospedale Buffalini, CESENA, Italy; 10Az.Osp.San Camillo-Fornanini, ROMA, Italy; 11Clinica Pediatrica Az. Osp. Univ., UDINE, Italy; 12Università degli Studi, BARI, Italy; 13Fondazione Poliambulanza Istituto Ospedaliero, BRESCIA, Italy; 14Università della Campania "Luigi Vanvitelli", NAPOLI, Italy; 15SSD Endocrinologia Pediatrica, Ospedale Pediatrico Microcitemico, CAGLIARI, Italy; 16Dipartimento di pediatria Università, L’AQUILA, Italy; 17Università di Modena e Reggio, MODENA, Italy; 18IRCCS Ospedale Gaslini, GENOVA, Italy; 19Ospedale Sacco, Università degli Studi di Milano, MILANO, Italy; 20SCDU di Pediatria, Università del Piemonte Orientale, NOVARA, Italy; 21Dipartimento di Endocrinologia Pediatrica, Ospedale Pediatrico Regina Margherita, TORINO, Italy; 22U.O. Pediatria, FOLIGNO (PG), Italy; 23Ospedale Pediatrico Meyer, FIRENZA, Italy; 24Università "Federico II", Napoli, Italy; 25Ospedale Pediatrico Burlo Garofolo, TRIESTE, Italy; 26UO Pediatria, ASST dei sette laghi, VARESE, Italy; 27Unità di Auxologia, Università di Torino, TORINO, Italy; 28Az.Osp.Univ. "S.Orsola-Malpighi", BOLOGNA, Italy; 29Ospedale Pediatrico Giovanni XXIII, BARI, Italy
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The efficacy and safety of recombinant biosimilar growth hormone treatment in children with GHD and SGA: a Czech retrospective national longitudinal study
1Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic; 2Faculty of Medicine, Palacky University, Olomouc, Czech Republic; 3Faculty of Medicine, Charles University, Pilsen, Czech Republic; 4Sandoz GmbH, Prague, Czech Republic
hrp0094p2-297
A qPCR based approach for rapid detection of Turner Syndrome and its variants
1Institute of Post Graduate Medical Education and Research, Kolkata, India; 2Healthworld Hospital, Durgapur, India; 3Genome Science School of Interdisciplinary Studies, Kalyani, India; 4Saha Institute of Nuclear Physics, Kolkata, India
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Case report: Tall stature, obesity and hip dysplasia in Weaver syndrome due to a loss-of-function variant in EHZ2
Department of Paediatric Endocrinology, Royal London Hospital, London, United Kingdom
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Association of Daily Growth Hormone Injection Adherence and Height among Children with Growth Hormone Deficiency
1Pfizer, Tadworth, United Kingdom; 2University of Minnesota Masonic Children’s Hospital, Minneapolis, USA; 3Genesis Research, Hoboken, USA; 4Pfizer Inc, New York, USA; 5Pfizer Inc, Collegeville, USA; 6IQVIA, Falls Church, USA; 7Cambridge, Falls Church, USA; 8IQVIA, Cambridge, USA; 9IQVIA, Plymouth Meeting, USA
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Two Sibling Cases with Growth Hormone Receptor Mutation: Variable Clinical Expressivity in Laron Syndrome
1Pediatric Endocrinology, Dr. Sami Ulus Gynecology, Obstetrics, and Child Health and Diseases Training and Research Hospital, Saglik Bilimleri University, Ankara, Turkey; 2Clinic of Medical Genetics, Dr. Sami Ulus Gynecology, Obstetrics, and Child Health and Diseases Training and Research Hospital, Saglik Bilimleri University, Ankara, Turkey
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Impact of estrogen therapy on pubertal growth in Turner syndrome
1Department of Pediatric Endocrinology, AP-HP University Paris-Saclay, Hospital Bicêtre, Le Kremlin-Bicêtre, France; 2CESP, Cancer Radiation Team, Institut Gustave Roussy, Villejuif, France; 3Department of Gynecology, AP-HP University Paris-Saclay, Hospital Bicêtre, Le Kremlin-Bicêtre, France
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Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes
1Department of Human Molecular Genetics, Institute of Human Genetics, Heidelberg, Germany; 2Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands; 3Section on Growth and Development, National Institute of Health, Bethesda, USA; 4Computational Oncology Group, Molecular Diagnostics Program at the National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), Heidelberg, Germany; 5Institute of Human Genetics, Heidelberg, Germany; 6Department of Clinical Genetics, University of Leiden, Leiden, Netherlands
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Early-onset growth hormone treatment in Prader-Willi syndrome attenuates the risk of transition to severe obesity
1Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic; 2Department of Children and Adolescents, 3rd Faculty of Medicine, Charles University and University Hospital in Královské Vinohrady, Prague, Czech Republic; 3Institute of Endocrinology, Prague, Czech Republic; 4Department of Pediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czech Republic; 5Department of Pediatrics, Hospital České Budějovice, České Budějovice, Czech Republic; 6Department of Pediatrics, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic; 7Department of Pediatrics, Faculty of Medicine, Charles University and University Hospital Hradec Králové, Hradec Králové, Czech Republic; 8Department of Pediatrics, Faculty of Medicine, Charles University and University Hospital Pilsen, Pilsen, Czech Republic; 9Department of Pediatrics, Masaryk Hospital, Ústí nad Labem, Czech Republic; 10Department of Pediatrics, Faculty of Medicine, Palacky University and Olomouc University Hospital, Olomouc, Czech Republic; 11Institute of Biostatistics and Analyzes, s.r.o., Brno, Czech Republic
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Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?
1Post-Graduate School of Pediatrics, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy; 2Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, Modena, Italy
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Efficacy of recombinant growth hormone therapy in TRPS 1 syndrome coexisting with growth hormone deficiency.
1Student Scientific Society of Pediatric Endocrinology, Poznan University of Medical Sciences, Poznan, Poland; 2Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland
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Results from the Implementation of a Growth Disorders Related Twinning Programme (Partners4Growth) at tertiary pediatric endocrinology clinics
1Department of Pediatrics, Medical University of Pleven, Pleven, Bulgaria; 2Department of Pediatrics, Medical University of Varna, Varna, Bulgaria; 3Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria; 4Department of Pediatrics and Medical Genetics, Medical University of Plovdiv, Plovdiv, Bulgaria; 5Clinic of Pediatrics, Acibadem City Clinic Tokuda Hospital, Sofia, Bulgaria
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Co-occurrence of Turner (46,X-ring/45,X0 mosaicism) and Mayer-Rokitansky-Kuster-Hauser Syndromes: a case report
Pediatric Department, Università degli Studi di Milano-Bicocca, Fondazione MBBM, Ospedale San Gerardo, Monza (MB), Italy
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Shox Gene Pathologies In Children With Short Stature And Madelung Deformity
1Department of Pediatric Endocrinology, Health Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Child Health and Diseases Training and Research Hospital, Ankara, Turkey; 2Department of Medical Genetics, Health Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Child Health and Diseases Training and Research Hospital, Ankara, Turkey
hrp0094p2-314
Characteristics of Patients with Noonan Syndrome Carrying a PTPN11 Mutation: The Recombinant Growth Hormone Treatment and Long-Term Follow-up
Health Sciences University, Dr. Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital, Pediatric Endocrinology Clinic, Ankara, Turkey
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Determining factors of a good response to treatment with growth hormone for the first 2 years
1Hospital Miguel Servet, Zaragoza, Spain; 2Hospital Universitario de Donostia, San Sebastián, Spain; 3Consorcio Hospital General Universitario de Valencia, Valencia, Spain; 4Fundación Hospital de Calahorra, Calahorra, Spain
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Noonan syndrome patients with short stature at a single pediatric endocrinology centre
1Dept. of Pediatrics, UMHAT “Sv. Marina”, Varna, Bulgaria; 2Dept. of Pediatrics, Medical University of Varna, Varna, Bulgaria; 3Dept. of Medical Genetics, Medical University of Varna, Varna, Bulgaria; 4Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
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Thyroid status in children with Turner syndrome
1Belarusian State Medical University, Minsk, Belarus; 2Republican scientific and practical center of children’s Oncology, Hematology and immunology, Minsk, Belarus; 3Republican Center for Medical Rehabilitation and Balneotherapy, Minsk, Belarus
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Rare case report: A Chinese boy with MDPL syndrome cause by POLD1 gene mutation
The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
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An Unusual Case of Gastrointestinal Bleeding; Expecting the Unexpected
Brooke Sarah    
Royal Cornwall Hospital, Truro, Cornwall, United Kingdom
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Alterations in Metabolic profile and Body Composition in children with Silver Russell syndrome
1Department of Paediatrics, Istituto Giannina Gaslini, Genova, Italy; 2Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy; 3Department of Biostatics, Genova, Italy
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Growth abnormalities in patients with Type 1 diabetes
Department of Endocrinology-Diabetology and Nutrition, Mohammed VI University Hospital Center, Faculty of Medicine and Pharmacy, University of Mohammed 1st, Oujda, Morocco
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A novel CEP57 mutation of mosaic variegated aneuploidy syndrome in a Chinese girl: a case report and review of literature
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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Differential diagnosis of pre- and postnatal short stature revisited: 3-M syndrome
Justus Liebig University, Centre of Child and Adolescent Medicine, Divison of Pediatric Endocrinology and Diabetology, Giessen, Germany
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A case of a Floating-Harbor syndrome in a child with severe short stature.
Endocrinology Research Centre, Moscow, Russian Federation
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Excessive body hair, short stature and advanced bone age in a girl: Hypertrichosis versus adrenarche?
1Hamad General Hospital, Doha, Qatar; 2University of Alexandria, Alexandria, Egypt.
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Cornelia de Lange syndrome: a case report
Department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital, OUJDA, Morocco
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Final and Near-final Adult Height and BMI after Long-term Growth Hormone Treatment in Patients with Turner Syndrome (TS)
1King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia; 2University of Alexandria, Alexandria, Egypt
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Evaluating Safety, Efficacy, and Pharmacokinetics of Weekly TransCon CNP in Children with Achondroplasia: Design of the ACcomplisH Trial
1Children’s Health Ireland at Temple Street, Dublin, Ireland; 2Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom; 3University of Arkansas for Medical Sciences, Little Rock, USA; 4Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; 5Johannes Kepler University Linz, Linz, Austria; 6University of Missouri-Columbia, Columbia, USA; 7Ascendis Pharma, Inc., Palo Alto, USA; 8Ascendis Pharma, A/S, Hellerup, Denmark; 9Murdoch Children’s Research Institute and University of Melbourne, Melbourne, Australia
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