hrp0082p3-d3-862 | Growth (4) | ESPE2014

Muccopolysacharidose and Hypopituitarism: a Case Report

Kabour Saida , Fedala Soumeya , Chentli Farida , Yaker Fetta Amel , Ali Leila Ahmed

Background: Mucopolysaccharidosis 6 (MPS6) (or Maroteaux–Lamy syndrome) is a rare genetic disease characterized by progressive systemic disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase which causes an accumulation of dermatan sulfate (DS). It is due to mutations in the BRSA gene, located on chromosome 5. In severe cases, the accumulation of DS in the body cells occurs mainly in bones, joints, eyes, heart and brain. Its association with anterior...

hrp0082p3-d2-893 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Severe Vitamin D Deficiency Among Pregnant Women and Their Newborns in Turkey

Parlak Mesut , Kalay Zuhal , Kirecci Ahmed , Guney Ozgur , Koklu Esad , Kalay Salih

Objectives: Vitamin D deficiency is an important health problem in pregnant women and their infants in sunny countries. The present study evaluated serum 25-hydroxyvitamin D3 (25(OH)D3) concentrations in pregnant women and in their newborns and determined the risk factors in LSES cities in Turkey.Methods: Ninety-seven pregnant women and their newborns were included in the study between December 2012 and February 2013. All of the pregnant women had irregu...

hrp0084wg3.4 | DSD | ESPE2015

I-DSD and I-CAH Registry Update

Ahmed Faisal , Bryce J , Jiang J , Watt J , Rodie M E

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

hrp0084p1-59 | DSD | ESPE2015

Novel Genetic Associations in Children with Disorders of Sex Development and Neurodevelopment Disorders – Insights from the Deciphering Developmental Disorders study

Gazdagh Gabriella , Study DDD , Tobias Edward S , Ahmed S Faisal , McGowan Ruth

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

hrp0084p2-224 | Bone | ESPE2015

Fractures in Boys with Duchenne Muscular Dystrophy and their Relationship to Age

Joseph Shuko , Di Marco Marina , Horrocks Iain , Ahmed S Faisal , Wong S C

Objective and hypotheses: A retrospective review of bone morbidity in a contemporary cohort of boys with Duchenne muscular dystrophy (DMD) managed in a Scottish tertiary neuromuscular centre.Method: Clinical details and results of bone surveillance were obtained in 47 boys, aged 9 years (2–16). DXA bone mineral content (BMC) at total body (TB) and lumbar spine (LS) were adjusted for bone area. Fractures were classified based on radiological confirma...

hrp0084p2-275 | Diabetes | ESPE2015

Do Pancreatic Functions Predict Cardiac and Liver Iron Loading in Transfusion-Dependent β-Thalassemia Major Patients Using Cardiovascular and Liver T2-Star (T2*)Magnetic Resonance?

Mokhtar Galila , Ibrahim Wafaa , Elbarbary Nancy , Matter Randa , Ibrahim Ahmed , Sayed Safa

Background: Regular and frequent red blood cell transfusions have significantly increased the life expectancy of patients with β-thalassemia major (β-TM). However, when no appropriate chelation therapy is available, patients accumulate iron in the heart, liver, spleen, pancreas, and endocrine glands, leading to progressive organ dysfunction.Objective and hypotheses: To assess the correlation between cardiac and hepatic T2*MRI findings with the ...

hrp0084p3-638 | Autoimmune | ESPE2015

The Autoimmune Polyendocrinopathies in Children and Adolescents

Fedala Soumeya Nora , Haddam Ali El Mahdi , Ali Leyla Ahmed , Meskine Djamila , Chentli Farida

Background: PEA is a rare disease characterised by the coexistence of two endocrine autoimmune deficiencies, sometimes with a non-endocrine autoimmune disease associated concomittente of occurrence or metachronous way. Depending on the age of onset of the disease and the characteristics observed, we can distinguish several subgroups.Objective and hypotheses: Search frequency of PEA in children and adolescents and study their phenotype.<p class="abste...

hrp0084p3-720 | Diabetes | ESPE2015

Cardiovascular Autonomic Neuropathy and Early Atherosclerosis in Adolescent Type 1 Diabetic Patient

Battah Ahmed , Dayem Soha Abd El , Bohy Abo El Magd El , Allah Nagwa Abd

Objective: To evaluate cardiovascular autonomic neuropathy (CAN) in type 1 Diabetics and to detect its relation to coronary artery calcification.Patients and methods: It is a cross sectional study included 62 diabetics and 30 controls. Clinical, laboratory assessment and 24 h holter were done for all patients and controls and coronary artery calcium (CAC) scoring by multisclice CT was done for all patients only. t-test, Mann–Whitney U-test ...

hrp0084p3-724 | Diabetes | ESPE2015

Study of Adiponectin Level in Diabetic Adolescent Girls in Relation to Glycaemic Control and Complication of Diabetes

Dayem Soha Abd El , Nazif Hayam K , Kader Mona Abd El , El-Tawil Maha , Battah Ahmed

Objective: To determine the influence of adolescent girls with type 1 DM on circulating levels of adiponectin and to study the relation between adiponectin level with glycemic control and complication of diabetes.Patients and methods: The study included 40 female adolescent type 1 diabetic patients and 40 healthy volunteer of the same age and sex. Blood sample was taken for assessment of glycosylated haemoglobin, lipid profile and adiponectine. Urine sam...

hrp0084p3-913 | Fat | ESPE2015

Phenotypic Study of Obesity in Children and Adolescents

Fedala Soumeya Nora , Haddam Ali El Mahdi , Ali Leyla Ahmed , Meskine Djamila , Chentli Farida

Background: Child Obesity is a major health problem. It is mainly due to a high diet and low physical activity. In some cases, they may be due to genetic causes. It must be detected and treated precociously due to an increased risk of early onset of diseases, including diabetes and heart disease.Objective and hypotheses: Search the frequency, clinical and etiological characteristics of obesity in children and adolescents.Method: Th...