ESPE Abstracts

Introduction: Hyperthyroidism (HT) is a condition characterized by inappropriately high thyroid hormone (TH) activity at receptor level, due to high synthesis and secretion of TH by thyroid gland. Antithyroid drugs as methimazole (MMI) are used as the first-line therapy in children. However, the optimal treatment duration and the predictive remission factors are still controversial.Objective: To investigate outcome of MM...

Background: Congenital Hypothyroidism (CH) is the most common neonatal endocrinologic disorder and one of the most preventable causes of mental retardation and neurological alterations in children. The incidence of CH lies between 1 in 2000-3000 newborns. The replacement therapy with levothyroxine (LT4) should be started immediately since studies show that a rapid normalization of TSH and fT4 optimizes the neurodevelopmental outcome. Infants with Down syndrome...

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

Introduction: The metabolic effects of oral hormonal contraception (OC) on telomere length (RTL) in young women with T1D are unknown.Objective: To determine the effect of using an OC on glycemic control, inflammatory profile, and RTL in young women with T1D and healthy women without diabetes (C).Methodology: T1D (n:20, age: 20.6 ± 3.3 years) and C (n:22, age 20.2 ± 3 years) u...

Background: Laparoscopic sleeve gastrectomy (LSG) has been established as a safe and effective bariatric procedure during adolescence, but its long-term results remain uncertain. Our aim was to report and compare the short- and long-term outcomes of LSG in adolescents.Methods: We performed a retrospective analysis of patients submitted to LSG between 2010 and 2013 in our Institution. Baseline, short-term (1 year) and lon...

Background/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...

Introduction: Primary Pseudotumor cerebri (PPTC), also known as idiopathic intracranial hypertension, is clinically characterized by increased intracranial pressure in an alert and oriented patient, with no evidence of deformity or obstruction of the ventricular system on neuroimaging. Cerebrospinal fluid analysis is normal except for increased intracranial pressure at lumbar puncture, greater than the 90th percentile (28 cm of H2O) in the pediatric population. Papilledema may...

Background: Monogenic diabetes represents a group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes according to age of onset, with neonatal DM (<6 months of age) and maturity onset diabetes of young (MODY) (>6 months and <25 years of age); not every case can be classified into those groups.Objective and hypot...

Background: Childhood obesity is one of the most prevalent and challenging health care concerns. In this context, insulin resistance (IR) is an important disorder with strong association with metabolic (type 2 diabetes, hypercholesterolemia) and cardiovascular (hypertension, atherosclerosis) outcomes. Clinical trials have been showing Metformin as an effective drug on reducing the IR and BMI. However, there is little data on use of metformin in children....

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...