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...

hrp0092p2-112 | Fat, Metabolism and Obesity | ESPE2019

Identification of a Novel Heterozygous Missense Mutation in Low-density Lipoprotein Receptor Gene (LDLR) p.(Met652Thr) in an Emirati Family with Familial Hypercholesterolaemia (FH), Observed Genotype-phenotype Correlations and Pharmacotherapeutic Approaches

Al-Olabi Lara , Suliman Sara , Daggag Hinda

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

hrp0089p3-p254 | Growth & Syndromes P3 | ESPE2018

Woodhouse-Sakati Syndrome: Clinical and Molecular Study on a Qatari Family with C2orf37 Gene Mutation

Al-Khawaga Sara , Khalifa Amal , Hussain Khalid

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

hrp0084p3-764 | Diabetes | ESPE2015

The Role of KCNJ11 Gene in Neonatal Diabetes

El Dayem Soha Abd , Shawky Shereen , Kader Mona Abd El , Kamel Solaf , Khalifa Rania Hassan , Lebedy Dalia El , Ahmed Dina

Background: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of life. Infants with NDM do not produce enough insulin, leading to hyperglycaemia. An identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the KCNJ11 gene, which codes for the Kir6.2 subunit of the beta cell of the ATP sensitive potassium channel (KATP). The identification of KCNJ11 mutation has im...

hrp0084p1-102 | Perinatal | ESPE2015

The Role of HNF1B in Human Pancreas Development and Diabetes

El Khairi Ranna , Hattersley Andrew , Vallier Ludovic

Background: Diabetes mellitus is a heterogeneous disorder with multiple aetiologies. Monogenic diabetes accounts for an estimated 2–5% of cases and is often associated with impaired pancreas development and β-cell dysfunction. Heterozygous mutations in the transcription factor, HNF1B, result in multi-system disease including diabetes due to β-cell dysfunction, hepatic insulin resistance and pancreatic hypoplasia. However, the mechanisms that underlie development...

hrp0094p2-59 | Bone, growth plate and mineral metabolism | ESPE2021

Vertebral compression and shape in children with osteogenesis imperfecta on regular Zoledronic acid infusions

Baioumi Alaa , El Houssinie Moustafa , Elsedfy Heba ,

Introduction: Osteogenesis Imperfecta (OI) is a group of rare hereditary collagen disorders. Vertebral compression fractures and vertebral deformities are well-known complications of OI. Intravenous zoledronic acid is widely used to improve the bone mineral density in children with OI. This study aimed at assessment of the changes in vertebral compression and shape in children who received regular zoledronic acid infusions.Method...

hrp0095p1-461 | Diabetes and Insulin | ESPE2022

Risks and Metabolic Consequences of Ramadan Fasting on Egyptian Adolescents With Type 1 Diabetes Mellitus

Abdelghaffar Shereen , Shaltout Inas , Madani Hanan , Zaid Sara , Mira Marwa

Background: Although Ramadan fasting is one of the five pillars of Islam and is compulsory for all healthy Muslims from puberty onwards, religious exemptions exist for patients with type 1Diabetes. The risks of fasting include: hyperglycemia, hypoglycemia, ketoacidosis, thrombotic episodes, and dehydration. Many adolescents still insist to fast due to religious or social motives.Objectives: To study the risks and metabol...

hrp0095p1-84 | Fat, Metabolism and Obesity | ESPE2022

Osteocalcin in Infancy and Early Childhood Related to Covariates and Growth: A Longitudinal Birth Cohort Study

Berggren Sara , Dahlgren Jovanna , Andersson Ola , Bergman Stefan , Roswall Josefine

Context: Osteocalcin is a bone formation marker that has recently sparked interest for its endocrine involvement in glucose homeostasis and obesity. Nevertheless, its natural pattern during infancy and early childhood remains unknown.Objectives: We established reference values for total serum osteocalcin during specific timepoints from birth until five years of age, and presented these in the context of covariates.<p...

hrp0095p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Pediatric transgender care from an endocrine perspective: experience over the past decade in a tertiary Swiss center

Mazzi Sara , Nussbaum Marie-Lou , Christa Flück E.

Gender dysphoria indicates a psychological distress due to any incongruence between biological sex and gender identity, while transgender identity refers to an individual, whose gender identity is the opposite of the biological sex. The number of gender dysphoric youth seeking hormonal care seems to rise worldwide. Therefore, numerous bioethical and medical controversies are raising about possible side effects of hormonal therapies, including interference with brain developmen...