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

Bone, growth plate and mineral metabolism

Vertebral compression and shape in children with osteogenesis imperfecta on regular Zoledronic acid infusions
1Paediatrics Department, Ain Shams University, Cairo, Egypt; 2Health Education England, Kent, Surrey and Sussex, United Kingdom; 3Department of Community Medicine, Ain Shams Medical School, Cairo, Egypt
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Osteosclerotic Metaphyseal Dysplasia: A novel homozygous LRRK1 mutation in two siblings
1Department of Paediatrics, Birmingham Heartlands Hospital, Birmingham, United Kingdom; 2Department of Endocrinology and Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, United Kingdom; 3Institute of Metabolism and Systems Research, University of Birmingham, United Kingdom
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Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families
1Department of Paediatric Endocrinology & Diabetes, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan; 2Department of Paediatric Endocrinology & Diabetes, Hameed Latif Hospital, Lahore, Pakistan; 3Department of Paediatric Gastroenterology & Hepatology, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan; 4Department of Paediatric Radiology, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan
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Lack of Cinacalcet response in Neonatal Severe Hyperparathyroidism (NSHPT) due to homozygous CASR mutation
1Department of Neonatology, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan; 2Department of Paediatric Endocrinology and Diabetes, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan; 3Department of Paediatric Endocrinology and Diabetes, Hameed Latif Hospital, Lahore, Pakistan; 4Department of Paediatric Gastroenterology and hepatology, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan; 5Department of Paediatric Surgery, Hameed Latif Hospital, Lahore, Pakistan
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Is conventional treatment still the first choice in pediatric patients with PHEX mutations in an era of monoclonal FGF-23 antibody?
1Hacettepe University Pediatric Endocrinology, Ankara, Turkey; 2Hacettepe University Medical Genetics, Ankara, Turkey
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Phenotype characterization of a PHEX intron mutation in an Italian family affected by X linked hypoposphatemic rickets.
1Department of Child, Woman, General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Naples, Italy; 2Department of Paediatrics, University of Bologna, Bologna, Italy; 3Endocrinology, Department of Advanced Medical and Surgical Sciences, University "Luigi Vanvitelli", Naples, Italy
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Premature epiphyseal fusion induced by Palovarotene in a young girl with fibrodysplasia ossificans progressiva
1Karolinska Institutet and University Hospital, Stockholm, Sweden; 2Örebro University and University Hospital, Örebro, Sweden
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PTEN downregulation in mouse osteoprogenitor cells impacts on bone stability and turnover
1Hospital for Children and Adolescents, Leipzig University, Leipzig, Germany; 2Institute of Human Genetics, Leipzig University, Leipzig, Germany; 3Helmholtz Institute for Metabolic, Obesity and Vascular Research, Leipzig University, Leipzig, Germany; 4Bone Lab, University Hospital Carl Gustav Carus, Dresden, Germany
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Primary hyperparathyroidism due to a deletion of the CDC73 gene.
1Foundation Clinic Valle de Lili, Cali, Colombia; 2Foundation Clinic Club Noel, Cali, Colombia; 3UNILIBRE, Cali, Colombia; 4GRIMPED, Cali, Colombia; 5Instituto de Investigación Sanitaria Biocruces Bizkaia, Barakaldo, Spain; 6Hospital Universitario Cruces, Barakaldo, Spain; 7UPV/EHU, Barakaldo, Spain; 8CIBERDEM, CIBERER, EndoERN, Barakaldo, Spain
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Afebrile seizure in a toddler girl with alopecia: a case report
1Paediatric Endocrinology Unit, Hospital de Dona Estefânia – Central Lisbon University and Hospital Centre, Lisbon, Portugal; 2Paediatric Department - Médio Tejo Hospital Centre, Torres Novas, Portugal
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A rare cause of hypophosphatemic rickets; Non-lethal Raine syndrome
1Karadeniz Technical University, School of Medicine, Department of Pediatric Endocrinology, Trabzon, Turkey; 2Karadeniz Technical University, School of Medicine, Department of Medical Biology, Trabzon, Turkey; 3Karadeniz Technical University, Faculty of Dentistry, Trabzon, Turkey
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Effect of tamoxifen on linear growth of precocious female SD rats
The First Affiliated Hospital of Sun Yat Sen University, GUANGZHOU, China
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Clinical, molecular characterization and long-term follow-up of a patient with neonatal severe hyperparathyroidism
1Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal; 2Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal; 3Unidade de Cuidados Intensivos Neonatais, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal; 4Unidade de Endocrinologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal
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Effect of Soy and Whey on growth pattern in young male Sprague-Dawley rats
1The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children’s Medical Center of Israel, Petah Tikva, Israel; 2Felsenstein Medical Research Center, Petah Tikva, Israel; 3Sackler Faculty of Medicine, Tel Aviv, Israel
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Early-onset osteoporosis due to LRP5
Pontificia Universidad Catolica De Chile, Santiago, Chile
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Vitamin D - What is the Optimal Level in the Pediatric Population
1Department of Pediatrics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; 2Faculty of Medicine, Hebrew University, Jerusalem, Israel; 3Department of Data Management, Clalit Health Services, Jerusalem, Israel; 45 Pediatric Specialist Clinic, Clalit Health Services, Jerusalem, Israel; 5Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel
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Schimke immune-osseous dysplasia manifested by stunted growth and spinal epiphyseal dysplasia: a case report
1The First Affiliated Hospital, Sun Yat-sen University, GuangZhou, China; 2Jiangmen Maternity And Child Health Care Hospital, Jiangmen, China
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A rare cause of childhood hypercalcemia: Parathyroid adenoma
1Hitit University, Faculty of Medicine, Pediatric Endocrinology Clinic, Çorum, Turkey; 2Hitit University, Faculty of Medicine, Pediatric Gastroenterology Clinic, Çorum, Turkey; 3Hitit University, Faculty of Medicine, Department of Pediatric Surgery, Çorum, Turkey; 4Hitit Unıversity Erol Elcok Training and Research Hospital, Department of Pediatric Surgery, Çorum, Turkey
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One gene, two diseases: osteogenesis imperfecta, or Bruck syndrome?
1Pediatric Endocrinology, Dr. Sami Ulus Gynecology, Obstetrics, and Child Health and Diseases Training and Research Hospital, Saglik Bilimleri University, 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
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Spontaneous Reshaping of Vertebral Fractures in an Adolescent with Osteogenesis Imperfecta
Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria
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A rare presentation of Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia - Is this association possible?
1Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo, Brazil; 2Irmandade da Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil
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Two sibling cases with heterozygous calcium sensing receptor (CaSR) gene mutation
1Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey; 2Department of Neonatology, Etlik Zubeyde Hanim Women’s Health Teaching and Research Hospital, University of Health Sciences, Ankara, Turkey; 3Ankara University Faculty of Medicine, Clinic of Pediatric Endocrinology, Ankara, Turkey
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Changing reality: rebirth of old diseases in new circumstances. Severe vitamin D deficiency presenting as hypocalcemic seizures in a healthy adolescent after prolonged COVID-19 lock-down.
1Pediatric Endocrinology Unit and Diabetes Service, Shamir (Assaf Haroffeh) Medical Center, Beer Yaqov, Israel; 2Head of Pediatric Endocrinology Unit and Diabetes Service, Shamir (Assaf Haroffeh) Medical Center, Beer Yaqov, Israel; 3Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; 4Chief Emeritus Pediatric-Endocrinology and Diabetes Unit, Dana Dwek Children Hospital, Tel-Aviv Medical Center, Tel Aviv, Israel
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Two-year experience of burosumab therapy in pediatric XLH patients in Saudi Arabia
1National Gaurd Hospital, Riyadh, Saudi Arabia; 2King Faisal Specialist Hospital, Riyadh, Saudi Arabia; 3National Gaurd Hospital, Jeddah, Saudi Arabia
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Characterization of Patients with Achondroplasia in a pediatric clinic of Cali, Colombia.
1Fundation Clinica Club Noel, Cali, Colombia; 2Universidad Libre, Cali, Colombia; 3Grimped, Cali, Colombia
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A Rare Cause of Familial Hypomagnesemia: A Case with Trpm6 Mutation
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
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HDR Syndrome (Barakat Syndrome): Case Report
Alexandria University, Alexandria, Egypt
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Hungry Bone Syndrome associated to Rickets
1Pontificia Universidad Católica de Chile, Santiago, Chile; 2Hospital Clínico Dra. Eloísa Díaz I. La Florida, Santiago, Chile
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BUR-CL207: An Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients from Birth to Less than 1 Year of Age with XLH.
1Royal Manchester Children’s Hospital and Faculty of Biology, Manchester, United Kingdom; 2Evelina London Children’s Hospital, London, United Kingdom; 3Great Ormond Street Hospital, London, United Kingdom; 4Hospices Civils de Lyon-Hopital Femme Mere Enfant, Lyon, France; 5Children’s Hospital University, Cologne, Germany; 6Klinik für Kinder- und Jugendmedizin, Medizinische Fakultät, Technische Universität Dresden, Dresden, Germany; 7Pediatric Endocrinology, Charite, Berlin, Germany; 8Bambino Gesù Children’s Hospital – IRCCS, Rome, Italy; 9Astrid Lindgrens Barnsjukhus, Karolinska Universitetssjukhuset and Örebro Universitet, Stockholm, Sweden; 10Kepler University Hospital and Johannes Kepler University Linz, Linz, Austria; 11Hospital Virgen del Rocío, Seville, Spain; 12Kyowa Kirin Pharmaceutical Development Ltd, Galashiels, United Kingdom; 13AP-HP University Bicêtre Paris Saclay, Paris, France
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