ESPE Abstracts

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...

Background: Tissue Doppler echocardiography can predict early stages and progression of diabetic cardiac changes; especially ventricular dysfunction, a complication that adversely affect the quality of life and prognosis of the disease.Objective and hypotheses: The aim of this study was to assess systolic and diastolic functions of both ventricles in type 1 diabetes (T1D) patients by conventional and Tissue Doppler echocardiography, and to correlate card...

Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of ...

Background: type I diabetes is associated with progressive destruction of pancreatic β-cells with gradual decline of insulin secretion. C-peptide is considered the best indicator of endogenous insulin secretion in patients with diabetes.Aim of the Work: evaluate the effect of different variables associated with preserved pancreatic beta cell function at one year after diagnosis of children with type I DM.<p c...

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 ...

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...

Objective: The majority of individuals with Turner syndrome (TS) experience Primary Ovarian Insufficiency requiring hormone replacement therapy (HRT). As the international consensus guidelines are unclear on the optimal formulation and dosing for HRT after pubertal induction in adolescents and young adults (AYA) with TS, our aim was to assess the current HRT practice patterns of endocrinologists and gynecologists.Methods:</strong...

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...

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...

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...