ESPE Abstracts

Background: Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), is a rare inherited disease of childhood, caused by the mutation of the AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP), and Addison’s disease (AD), and can be associated with other autoimmune diseases and/or manifestations of ectodermal dystrophy.Case...

Background: Type 1 Diabetes Mellitus (T1DM) often coexists with other autoimmune diseases, either individually or as a part of polyendocrine syndrome (APS I-III). It is frequently associated with autoimmune thyroid, celiac, gastric and Addison’s disease. In the families with T1DM patients frequently coexist different autoimmune diseases (familial autoimmunity).Objective and hypotheses: Evaluating the frequency of associated and familial autoimmunity...

Objectives: Assess thyroid volume in relation to TSH and FT4 at diagnosis of AHT and 2.9 years of follow up in children with SH or OH.Methods: wo hundred one children (155 girls) with AHT were divided according to TSH and FT4 levels [SH-FT4 >1.0 ng/dl: Group 1: TSH: 5-7.5 mU/l, Group 2: TSH: >7.5 mU/l, OH: Group 3: TSH>7.5 mU/l and FT4 ≤1.0ng/dl]. Mean L-T4 dose is reported in µg/Kg/day. Thyroid...

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

Introduction: The presence of insulin resistance in obese children is strongly related to severity of obesity. Furthermore, insulin resistance is exacerbated during puberty, mainly due to increased sex steroids and growth hormone secretion.Objective: To compare obesity and insulin resistance indicators between pre-adolescent and adolescent children.Methods: 54 pre-adolescent and 41...

Background: The prevalence of childhood obesity is dramatically increasing worldwide. Overweight and obesity are well known risk factors for metabolic disorders such as Insulin Resistance, Type II Diabetes, Arterial Hypertension and Non Alcoholic Fatty Liver Disease (NAFLD).Aims: This study was conducted to assess the prevalence of Hypertriglyceridemic Waist phenotype (HTGW) among overweight and obese Greek children. Fur...

Background: To date, six cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity later in life, but a characteristic phenotype for 17p13.1 microduplication has not been delineated.Objective and hypothesis: We describe a young patient with a 422 Kb microduplication maternally inherited in 17p13.1, affected by mild intellectual disability and ...

Objectives: Assess the dose of levothyroxine in relation to TSH and FT4 levels at diagnosis of AHT in children with SH and OH.Methods: Eighty eight children (69 girls) with AHT were devised in regard with TSH and FT4 at diagnosis [SH-FT4 >0.9 ng/dl: Group 1: TSH: 4.5-7 mU/l, Group 2: TSH: 7-10 mU/l, Group 3: TSH: >10 mU/l and OH: Group 4: TSH>10 mU/l and FT4 ≤0.9 ng/dl]. Mean L-T4 dose was reported in μgr/Kg per day at diagnosis an...

Aim: To highlight the diagnosis of Hashitoxicosis and its distinction from Graves’s disease. Subjects with Hashimoto’s thyroiditis are often euthyroid or may experience subclinical or true hypothyroidism. However, in 5 to 10% of children, a transient phase of hyperthyroidism, called Hashitoxicosis, may occur.Patients-Methods: Three female patients, were referred at the ages of 61/12, 96/12 and 12...

Background: The natural evolution of euthyroid Hashimoto thyroiditis (HT) varies among children and treatment in children with HT and normal/mild elevated serum TSH is controversial.Objective and hypotheses: The aim was to study the natural course of HT in children and evaluate predictive factors of thyroid functionMethod: We evaluated data from 87 children retrospectively (63 girls, 24 boys), mean age 10.6±3.2yrs, with HT [an...