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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

Bone, Growth Plate & Mineral Metabolism P3

Growth Hormone Treatment of 2 Patients with X-linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth
aPoznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, Molecular Endocrinology Laboratory, Poznan, Poland; bPoznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, Poznań, Poland; cPoznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, Poznan, Poland; dKarol Jonscher’s Clinical Hospital, Department of Pediatric Endocrinology and Rheumatology, Poznan, Poland
hrp0089p3-p031
A Novel Homozygous Mutation in the CASR Gene in a Neonate with Severe Primary Hyperparathyroidism; A Case Report
aKing Fahad Armed Forces Hospital, Jeddah, Saudi Arabia; bKing Fahad Armed Foces Hospital, Jeddah, Saudi Arabia
hrp0089p3-p032
A 13 Year-Old Boy Diagnosed as Osteogenesis Omperfecta with Normal Bone Mineral Density
aDepartment of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey; bDepartment of Pediatric Endocrinology, Katip Celebi University, Izmir, Turkey
hrp0089p3-p033
A Rare Cause of Hypercalcemia in Childhood: Hypercalcemia Associated with Parathormon-Related Peptid
aDepartment of Pediatric Endocrinology, Katip Celebi University, Izmir, Turkey; bDepartment of Pediatric Endocrinology, Tepecik Training and Research Hospital, Izmir, Turkey; cDepartment of Pediatric Nephrology, Katip Celebi University, Izmir, Turkey; dDepartment of Pediatric Nephrology, Tepecik Training and Research Hospital, Izmir, Turkey
hrp0089p3-p034
Our Treatment Experience with Nocturnal Continuous Enteral Calcium Infusion in a Case with Vitamin D Resistance Rickets Type II
aDepartment of Pediatric Endocrinology, Tepecik Training and Research Hospital, Izmir, Turkey; bDepartment of Medical Genetics, Tepecik Training and Research Hospital, Izmir, Turkey; cDepartment of Pediatric Endocrinology, Katip Celebi University, Izmir, Turkey
hrp0089p3-p035
A Novel COL1A2 Gene Mutation in a Turkish Family with Osteogenesis Imperfecta
aCorlu State Hospital, Division of Paediatric Endocrinology, Tekirdag, Turkey; bCorlu State Hospital, Division of Endocrinology, Tekirdag, Turkey
hrp0089p3-p036
Hypophosphatemic Hypercalciuric Ricket: 3 Brothers with Dent's Disease
aUniversidad Catolica de Chile, Santiago, Chile; bHospital Dr. Sotero del Rio, Santiago, Chile; cUniversidad de Los Andes, Santiago, Chile
hrp0089p3-p037
Infantile Hypophosphatasia
aKeçiören Research and Educational Hospital, Ankara, Turkey; bYıldırım Beyazıt University, Ankara, Turkey
hrp0089p3-p038
Carbonic Anhydrase Deficiency: Three Siblings
Keçiören Research and Educational Hospital, Ankara, Turkey
hrp0089p3-p039
A Novel p.Gly775Glu Missense COL1A2 Mutation Causes Severe Osteogenesis Imperfecta in a Prepubertal Girl
a4th Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece; bDepartment of Bone and Mineral Metabolism, Institute of Child Health, Agia Sophia Children’s Hospital, Athens, Greece; cDepartment of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; dInterbalkan Medical Center, Thessaloniki, Greece
hrp0089p3-p040
SHOX Gene Deletion Screening by FISH in Children with Short Stature and Characteristics of Patients
Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey
hrp0089p3-p041
Low Level of Vitamin D in Children Increases the Risk of Bone Fractures
aHoly Spirit University of Kaslik, Faculty of Medicine and Medical Sciences, Byblos, Lebanon; bCentre Hospitalier Universitaire Notre Dame de Secours, Byblos, Lebanon
hrp0089p3-p043
Idiopathic Hypoparathyroidism in a 10 Year-Old Girl with Concomitant Epilepsy, Long Q-T Syndrome (LQTS), Pericarditis and Pneumonia
aDepartment of Pediatrics, Endocinology, Diabetology with Cardiology Division, Medical University of Białystok, Białystok, Poland; bDepartment of Paediartic Neurology and Rehabilitation, Medical University of Białystok, Białystok, Poland; cDepartment of Nuclear Medicine, Mediacl University of Białystok, Białystok, Poland; dGreat Ormond Street Hospital, London, UK
hrp0089p3-p045
The Level of the Vitamin D and Bone Mineral Density in Children with Obesity
aBelarusian State Medical University, Minsk, Belarus; bRepublic Medical Rehabilitation and Balneotherapy Center, Minsk, Belarus; c10th city clinical hospital, Minsk, Belarus
hrp0089p3-p046
Evaluation of Bone Mineral Density and Bone Metabolism Markers in Children Diagnosed as Celiac Disease
aHitit University, Erol Olçok Education and Research Hospital, Pediatric Endocrinology Department, Çorum, Turkey; bHitit University, Erol Olçok Education and Research Hospital, Pediatric Gastroenterology Department, Çorum, Turkey; cHitit University, Scholl of Medicine, Biostatistics Department, Çorum, Turkey
hrp0089p3-p047
Comparison of Serum 25-Hydroxy Vitamin D Levels among Children & Adolescence with Attention Deficit Hyperactivity Disorder and Healthy Lranian People
Imam Khomeini Hospital, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran, Islamic Republic of Iran
hrp0089p3-p048
A Rare Case of Familial Hypocalcemia
Endocrinology Research Center, Moscow, Russian Federation
hrp0089p3-p052
HDR Syndrome: A Case Report of Hypoparathyroidism, Hearing Loss and Renal Agenesis
aUniversity Children’s Hospital, Endocrinology Department, Sofia, Bulgaria; bMedical University Sofia, Sofia, Bulgaria; cMedical Center ‘Children’s Health’, Sofia, Bulgaria; dUniversity Children’s Hospital, Nephrology Department, Sofia, Bulgaria
hrp0089p3-p053
Growth in The Coeliac Disease of The Child
University of Medecine, Oran, Algeria
hrp0089p3-p054
The British OsteoNEcrosis Study: A Multi-centre Prospective Study
aUniversity of Leeds, Leeds, UK; bLeeds Children’s Hospital, Leeds, UK
hrp0089p3-p055
Response to Pamidronate Therapy and Pharmacogenetics in Patients with Osteogenesis Imperfecta
aPutrajaya Hospital, Putrajaya, Malaysia; bUKM Medical Molecular Biology Institute (UMBI), Kuala Lumpur, Malaysia; cDepartment of Paediatrics, University Kebangsaan Malaya Medical Centre, Kuala Lumpur, Malaysia; dDepartment of Pediatrics, UKM Medical Centre, Kuala Lumpur, Malaysia; ePutrajaya Hospital, Kuala Lumpur, Malaysia
hrp0089p3-p056
Results of 22 Weeks of Burosumab Therapy in a Patient with Severe Bone Deformities due to XLH
aDiabetes and Metabolism Unit, Department of Pediatrics, University Hospital Puerta del Mar, Cádiz, Spain; bDepartment of Mother and Child Health and Radiology, School of Medicine, Cádiz University, Cádiz, Spain; cNephrology Unit, Department of Pediatrics, University Hospital Puerta del Mar, Cádiz, Spain; dDiabetes and Metabolism Unit, Department of Pediatrics, University Hospital Puerta del Mar, Cádiz, Spain
hrp0089p3-p057
Severe Neonatal Hypercalcemia: A Challenging Case
aLady Ridgeway Hospital for Children, Colombo, Sri Lanka; bBirmingham Children’s Hospital, Birmingham, UK
hrp0089p3-p058
Are Caucasian Children at Risk of Sub-optimal Vitamin D Levels?
aUniversity of Exeter, Exeter, UK; bRoyal Cornwall Hospital, Truro, UK
hrp0089p3-p060
Incidence Rate of Vitamin D Deficiency in 12-year Old Children in Japan
aDepartment of Pediatrics, Dokkyo Medical University, Tochigi, Japan; bDepartment of Peditarics, Osaka University Graduate School of Medicine, Osaka, Japan; cDepartment of Pediatrics, Nasu Red Cross Hospital, Tochigi, Japan
hrp0089p3-p061
Idiopathic Juvenile Osteoporosis: Common Symptoms in an Uncommon Condition
aAlder Hey Children’s Hospital, Liverpool, UK; bAlder Hey Children’s Hospital, Liverpool, UK; cSheffield Teaching Hospital, Sheffield, UK
hrp0089p3-p062
Abstract unavailable
hrp0089p3-p063
A Novel Deletion Mutation in the GLUT 2 Gene in a Patient with Fanconi Bickel Syndrome
aAlborz University of Medical Sciences, Karaj, Islamic Republic of Iran; bSaee Rad Medical Genetic Laboratory, Karaj, Islamic Republic of Iran
hrp0089p3-p065
A Case of Turner Syndrome with Graves' Disease and Primary Hyperparathyroidism
aDepartment of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan; bDepartment of Endocrine Surgery, Tokyo Women’s Medical University, Tokyo, Japan
hrp0089p3-p066
Neonatal Hypocalcemia Revealing a Malignant Osteopetrosis
aDepartment of Pediatric Endocrinology, University Hospital Centre of Toulouse, Toulouse, France; bCentre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, University Hospital of Toulouse, Toulouse, France; cCentre de Compétence des Maladies Osseuses Constitutionnelles, University Hospital of Toulouse, Toulouse, France; dDepartment of Neonatology, University Hospital Center of Toulouse, Toulouse, France; eDepartment of Hematology and Oncology, University Hospital of Toulouse, Toulouse, France; fDepartment of Pediatric Radiology, Universitary Hospital of Toulouse, Toulouse, France; gINSERM Unit 1043, Physiopathology Center of Toulouse Purpan, Toulouse, France; hDepartment of Biochemistry, University Hospital Center of Toulouse, Toulouse, France; iCentre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, University Hospital of Toulouse, Toulouse, France; jEuropean Bone Network of Toulouse, Toulouse, France
hrp0089p3-p067
Frontal Behavior Dysfunctions Revealing a Dramatic Progression of Complex Cranial Base Abnormalities in a Severe Osteogenesis Imperfecta
aDepartment of Pediatric Endocrinology, University Hospital Centre of Toulouse, Toulouse, France; bCentre de référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, University Hospital of Toulouse, Toulouse, France; cCentre de Compétence des Maladies Osseuses Constitutionnelles, University Hospital of Toulouse, Toulouse, France; dDepartment of Pediatric Neurology, University Hospital Centre of Toulouse, Toulouse, France; eDepartment of Pediatric Neurosurgery, University Hospital Centre of Toulouse, Toulouse, France; fDepartment of Pediatric Orthopaedics, University Hospital Centre of Toulouse, Toulouse, France; gDepartment of Biochemistry, University Hospital Centre of Toulouse, Toulouse, France; hINSERM CRM 1043 (CPTP), University of Toulouse Paul Sabatier, Toulouse, France
hrp0089p3-p068
Hypercalcemia due to Six Newly Identified Inactivating Mutations in the CaSR Gene
Adana City Educational Research Hospital, Adana, Turkey
hrp0089p3-p070