ESPE Abstracts

Introduction: Thyroid dysfunction may cause a wide range of neurological disorders in children. Hypothyroidism is associated with peripheral nerve demyelination. However, minimal data are available in pediatric population.Purpose: To describe a case of newly diagnosed Hashimoto thyroiditis (HT) suffering acute-onset rapidly progressive peripheral polyneuropathy.Case Report: A 12-ye...

Background: Several studies have correlated Assisted Reproduction Technologies (ART) including classic IVF and Intacytoplasmic Sperm Injection (ICSI) with epigenetic alterations in the offspring that could have long lasting unfavorable metabolic effects. Proteomics, a state-of-the-art technology used for the identification of early biomarkers of disease, has already been implemented in the search of success in ART but not yet for such markers evaluation in offspring of ART.</p...

Background: Atherosclerosis begins in childhood and progresses silently. Triglycerides/HDL ratio(TG/HDL) is a risk factor for cardiovascular diseases.Objective and hypotheses: To investigate TG/HDL as possible predictive factor for metabolic disorders in children.Method: Descriptive correlation, with 110 children (6–12 years old) in Sparta, Greece. Anthropometric and biochemical analyzes were performed.R...

Background: Hashimoto’s thyroiditis (HT) is the most common thyroid disorder in the pediatric population.Objective and Hypotheses: The aim of the present study was to observe clinical manifestations, clinical course and long term outcomes of HT in children and adolescents.Method: A total of 110 children and adolescents who presented to our center from 2008–2015, were evaluated retrospectively. Age and gender of the patien...

Background: The relation between thyroid function and treatment with recombinant human GH (rhGH) has been the subject of many studies which indicate a decrease of fT4 levels and a compensatory TSH increase at rhGH therapy onset. On the other hand, we have identified a number of patients with documented primary hypothyroidism (either on treatment with L-thyroxine or not) before the onset of rhGH treatment.Objective and hypotheses...

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

Objectives: Age at menarche depends on genetic, environmental, epigenetic and other factors. Studies have shown that aspects of perinatal history, including birth weight, mode of delivery (caesarian section or vaginal delivery) and gestational week at birth influence the onset of puberty. The purpose of this study was to record the age at menarche in a sample of Greek girls and to correlate it with their perinatal history, the mothers’ age at menarche, t...

Background: The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: Explore the genetic cau...

Objective: To investigate the possible relationship between APO1/Fas, components of metabolic syndrome and Mean Platelet Volume (MPV) in a healthy pediatric population.Study design: 185 children, aged 5-17 years old, were enrolled to the study. The participants were divided intο subgroups according to age and body mass index percentile (BMI%). APO1/Fas was measured by ELISA and MPV by the MEK-6410K.Re...

Objectives: Menarche is defined as the first menstrual bleeding in females, and the age of onset varies and depends on a complex interaction between genetic and environmental factors. The LIN28B gene single nucleotide polymorphisms (SNPs) rs314276, rs7759938 and rs314280 appear to be associated with cases of premature and early menarche. International databases report that the presence of a G allele of rs314280SNP shifts menarche 1.2 months earlier, a C allele...