hrp0082p3-d2-643 | Adrenals & HP Axis (1) | ESPE2014

The Ganglioneuromas: About Eight Cases

Haddam Ali el Mahdi , Fedala Soumeya , Meskine Djamila , Chentli Farida , Laloui Amina , Ali Leila Ahmed

Background: The ganglioneuroma (GN) is a benign tumor of the sympathetic nervous system following the sympathogonies that affects children and young adults. This is a rare tumor (7/1 000 000) which can be located along the sympathetic chain from the neck to the pelvis. In 20% of cases, the GN is localized in the adrenal.Objective and hypotheses: Report observations of eight patients with GN.Observations: Eight patients (two boys an...

hrp0082p3-d1-669 | Bone | ESPE2014

Achondroplasia and Neurological Disorders

Saraoui Fatima , Fedala Soumeya , Mahdi Haddam Ali el , Chentli Farida , Meskine Djamila , Ahmed Ali Leila

Background: Achondroplasia is the most common cause of genetic dwarfism with a prevalence of 1/10 000 to 30 000 birth. It is a pathology of dominant inheritance linked to the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.Objective and hypotheses: Find the frequency of neurological complications...

hrp0082p3-d3-726 | Diabetes (2) | ESPE2014

Effect of Vitamin D Treatment on Glucose and Insulin Metabolism, and Bone Turnover in Children with Symptomatic Vitamin D Deficiency

El-fakhri Nagla , McMillan Martin , McNeilly Jane , Ahmed S F , McDevitt Helen

Background: There are limited data in paediatric population on the association between vitamin D deficiency/treatment and glucose/insulin metabolism.Objective and hypotheses: This study aimed to investigate the effect of vitamin D therapy on glucose homeostasis, insulin resistance and bone turnover, in children with vitamin D deficiency.Method: 22 children aged 3 months to 10 years (nine male) who were diagnosed with vitamin D defi...

hrp0082p3-d2-740 | Diabetes (3) | ESPE2014

Continuous Glucose Monitoring System in the Diagnosis of Early Glycemic Abnormalities in High-Risk Groups

Soliman Ashraf , Yassin Mohamed , Elawwa Ahmed , Elalaily Rania , De sanctis Vincenzo

Background: Continuous glucose monitoring (CGM) systems are an emerging technology that allows frequent glucose monitoring in real time.Objective and hypotheses: To assess the value of using CGM system (Medtronic) versus oral glucose tolerance (OGT) and HbA1c in the diagnosis of glycemic abnormalities (Prediabetes) in high-risk groups.Methods: We performed OGT and monitored glucose for 72 h using CGMS combined with four to five tim...

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 ...