ESPE Abstracts

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. In this study we reported on nine patients with OT-DSD, who were referred to the Human Genetics and endocrinology Clinics, division ...

Background: Given that diabetes is an extremely common disorder in Egypt, the Diabetes Registry was designed by Pediatric Diabetes Clinic, Ain Shams University Hospital in the year 2010.Aim: Identify risk factors related to poor glycemic control and to provide data to health professionals for use in planning, evaluation, and optimizing diabetes care in those patients.Subjects and methods: The registry was designed to provide inform...

Introduction: Children with Growth Hormone deficiency(GHD) should be treated with r-hGH as early as possible after the diagnosis is made. The primary objectives of therapy is to normalize growth during childhood and to achieve final height within their genetic potential.Objectives: To determine impact of GH treatment on short term linear growth in the 1st year of therapy in children with isolated growth hormone deficienc...

Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complet...

Pseudohypoparathyroidism (PHP) is a disorder caused by PTH resistance due to a genetic defect in imprinted GNAS cluster. It is characterized by high phosphorus, low to normal calcium and elevated PTH. It is classified into types 1a, 1b, 1c, pseudopseudohypoparathyroidism and type 2. Type 1a is often associated with Albright Hereditary Osteodystrophy (AHO) which is characterized by short stature, round facies, obesity, brachydactyly, ectopic calcifications and developmental del...

Introduction: Obesity is a rapidly growing health problem, with increasing worldwide prevalence. Obesity is accompanied by numerous metabolic and endocrine dysregulation. Thyroid dysfunction is one of the many metabolic aberrations that are associated with obesity. Thyroid dysfunction can be related to obesity, insulin resistance, and dyslipidemia. We aimed to study the thyroid function in children and adolescents with obesity and the metabolic parameters....

Introduction: Patients with type 1 diabetes (T1D) have a higher rate of morbidity and mortality compared with the general population, which varies across countries. Diabetic nephropathy (DN) is a common and serious complication of T1D. Osteopontin (OPN) is a calcium binding phosphoprotein that is expressed in glomerular basement membrane. OPN can be a potential marker of vasculopathy and subclinical atherosclerosis and hence a predictor of DN in T1D patients. ...

Background: Insulin resistance (IR) plays a larger role in type 1 diabetes (T1D) disease process than is commonly recognized. Dipeptidyl peptidase-4 (DPP-4) is an enzyme that is expressed on almost all cell surfaces. It deactivates many bioactive peptides involved in glucose regulation; glucose-dependent insulinotropic polypeptide and Glucagon-like peptide-1.Objectives: This study evaluates serum DPP-4 activity in adoles...

Introduction: Angiopoietin-like proteins (ANGPTLs) play critical roles in metabolism and are implicated in metabolic consequences of obesity. ANGPTL2 is a key adipocyte-derived inflammatory mediator that links obesity to systemic insulin resistance. ANGPTL3 directly regulate lipid, glucose and energy metabolism independent of angiogenic effects. In this study, we aimed to investigate the levels of ANGPTL2 and 3 in obese children and adolescents and their assoc...

Introduction: Obesity is considered a major risk factor for developing cardiovascular morbidity and mortality. Obesity affects the structure and function of the heart mainly by causing increased blood volume, elevated cardiac output, left ventricular (LV) hypertrophy, and LV diastolic dysfunction. All of which can play a role in causing heart failure.Objective: This cross-sectional study aimed to evaluate the effect of l...