ESPE Abstracts

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...

Background: Protein subfamilies within the Nuclear receptor (NR) family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth, and development. Despite their biological significance, their evolution and diversification remains to be elucidated. SNPs and mutations are characterized by the permanent alteration of the nucleotide sequence in the genome of an organism. These alterati...

Background: Apoptosis is a programmed sequence of events towards cell death. Blood vessels employ apoptosis for remodeling during development and to maintain homeostasis during adulthood. The atherosclerotic process begins in early childhood and is correlated with obesity and metabolic disorders.Objective and hypotheses: To investigate the correlation of apoptotic marker Apo-1/Fas with children’s biochemical and anthropometric characteristics.<p...

Background: Wolfram syndrome (WS or DIDMOAD) is a rare (prevalence of 1/770,000) autosomal recessive multi-systemic neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy. Additional features include diabetes insipidus (DI), sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness, and other endocrine disturbances leading to death in mid-adulthood. This syndrome is caused by recessive mutations in the wolfram...

Background: Metabolic syndrome (MetSyn) is defined as a group of disorders including diabetes mellitus, central obesity, dyslipidaemia, and hypertension.Aim: To investigate the role of lifestyle habits in correlation with MetSyn in children.Methods: In our research, 480 students, 6–12 years old, were participated living in Sparta–Greece. During 2011–2012, a specially designed questionnaire was used and anthropometric...

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

Background: Elevated blood pressure (BP) may occur from childhood, increasing the risk for hypertension in adulthood.Aim: To investigate the effect of anthropometric characteristics and lifestyle habits in children’s and adolescents’ BP.Methods: 949 children (<12 years old) from Lakonia, 178 teenagers (12–18 years old) from Athens and 372 from Kalamata, Greece, had participated during 2011–2014. A specially ...

Background: Uric acid and Triglycerides/HDL ratio are an important risk factor for cardiovascular diseases.Aim: To investigate how Triglycerides/HDL ratio and uric acid are correlated with children’s biochemical and anthropometric characteristics, depending on the predisposition for metabolic syndrome (MetSyn).Methods: 110 students, 6–12 years old, living in Sparta-Greece, participated in our research. Anthropometric and ...

Background: Sleep is a complex and essential biological process that is required on a daily basis for all humans, playing a vital role in the maintenance of the homeostasis in short and long term.Aims and objectives: To investigate the role of sleep hours in correlation with risk factors for metabolic disorders in a children population.Methods: The program was implemented in 949 children (5–12 years old) living in Sparta-Greec...

Background: Childhood obesity is considered to be an epidemic in developed countries that can negatively affect children’s health and psychology.Aims and objectives: To investigate the nutritional and environmental factors that lead to the presence of childhood obesity and its complications.Methods: A total of 949 students, 3–12 years old, living in Sparta–Greece, have participated in our research. Their lifestyle an...