ESPE Abstracts

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...

Background: Bone involvement is described as a relevant sign in patients suffering Gaucher disease (GD).Objective and hypotheses: To analyze the long-term effect of enzyme replacement therapy on bone mineral density, a retrospective observational study was conducted in a cohort of 34 GD pediatric patients (14 males, 20 females, median age 11.3 years).Method: Lumbar spine (LS) (L2–L4, N: 34) and total body (TB) (N: 24) bone min...

Introduction: About 20 thousands of new cases of obesity (Ob) are first registered in children and adolescents in Ukraine annually (morbidity 2.72/1000, prevalence 13.50/1000 of the corresponding population on 01.01.2016). Adolescent Ob shows catastrophic rise (prevalence 8.9/1000 in 2001 vs 28.3/1000 in 2015). Completely unclear the role of Ghr in the etiopathogenesis of obesity in adolescents.Methodology: A total of 39 obese children with HD (14 boys, ...

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

Background: Children born small for gestational age (SGA) are at risk for metabolic syndrome (MetS) as adults and show a higher prevalence of MetS components.Objective and hypotheses: To define the association between low birth weight and the presence of MetS in a cohort of obese Italian children and adolescents.Method: The presence of MetS was studied in a cohort of obese (BMI >90th centile) children and adolescents consisting...

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...

Background: Obesity is one of the most frequent chronic diseases in the world, however the true prevalence of obesity in the RF remains at the moment insufficiently studied.Aims: To study the age features of the prevalence obesity in boys in the Udmurt Republic - the region in European part of the Russian Federation with the children population of 335 000.Methods: 4795 boys aged 1–17 years were surveyed, among them 2368 (49.4%...