ESPE Abstracts

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

Introduction: The anxiety for hypoglycemia is a major stress factor for parents of children with T1DM and has been associated with poor diabetic control, reduced insulin doses and school-age children.Purpose: To determine the frequency and severity of parental anxiety for hypoglycemia and the associated factors.Patients and methods: The study included parents [21 (23.9%) fathers and 67 (76.1%) mothers] of 88 T1DM patients, with a m...

Background: Obesity in childhood and adolescence represents a major public health problem of our century and the leading cause of premature cardiovascular disease (CVD). A moderate elevation of thyroid-stimulating hormone (TSH) concentrations is frequently observed in obese children.Aim: The aim of our study was to evaluate the association of TSH and free thyroxine (FT4) concentrations with the clustering of cardiometabo...

Background: Thyroid hormones regulate metabolism and play a significant role in cardiovascular homeostasis. However, the association between thyrotropin (TSH), thyroid hormones and cardiometabolic risk factors has not been elucidated in euthyroid children and adolescents with overweight and obesity.Aim: Τo evaluate the relation of TSH and thyroid hormones with cardiometabolic parameters in euthyroid obese, overweight...

Background: The prevalence of obesity in childhood has increased dramatically during the last decades. Dyslipidemia, hypertension and insulin resistance – all components of the metabolic syndrome (MS) and well-known cardiometabolic risk factors – predispose to the development of inflammation and premature atherosclerotic cardiovascular disease in childhood.Aim: To determine “non- traditional” card...

Background: Obesity in childhood and adolescence has reached epidemic proportions. Endothelial dysfunction, as a consequence of dyslipidemia, hypertension, insulin resistance and inflammation, imposes a substantial risk for the development of metabolic syndrome (MS) in childhood and compromises the health of the pediatric population by promoting premature development of atherosclerotic cardiovascular disease.Aim: To inve...