ESPE Abstracts

Background: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

Introduction: The wide aromatization of androgens during puberty is responsible for the rapid bone maturation at this age. In this context, the use of aromatase inhibitors (AIs) has been justified by the potential to slow down the advancement of bone age and thus improve growth. For more than two decades, studies have pointed out the validity of AIs to improve the predicted final height (PFH). However, data on near-final height (NFH) of children treated with A...

Introduction: The placenta is an endocrine organ vital to fetal growth. It has multiple functions: pregnancy maintenance, nutrient and oxygen transport to the fetus, and removal of waste products among other functions. MicroRNAs (miRNAs) and proteins are significant mediators of these functions. A description of their global expression in healthy placenta may increase our understanding of the molecular biological pathways that are important for normal fetal gr...

Background: Adrenocortical Carcinoma (ACC) represents 0.16% of all pediatric neoplasm in children, 0-14.9 years, diagnosed between 1984-2010 according to Swedish Childhood Cancer Registry. ACC is most frequent in girls below 4 years of age.Case: A physically active 14 years old girl was referred due to growth velocity 0 cm over the last year. Her history revealed substantial weight gain (photos), pubertal arrest prem...

Background: To diagnose non classical congenital adrenal hyperplasia (NCCAH) and adrenal insufficiency (AI), current guidelines recommend ACTH test. Cutoffs for 17 hydroxyprogesterone (17OHP) and cortisol are derived from immunoassays values. Thanks to a recently developed and validated mass spectrometry approach (LC-MS/MS) we routinely quantify simultaneously 16 circulating steroids and we are able to speculate on new cut off values and uses.<p class="abs...

Objective: To evaluate bone mineral density (BMD) and its relationship with vitamin D in children with obesity.Methods: We examined 110 children in the University Hospital (Minsk) from 2015 to 2018 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Body composition with evaluating of mineral component were made by dual energy X-ray absorptiometry with the calculation of feet, hands, spine, ribs, hips BMD (g/cm<s...

Background: The aim was to determine prevalence and age at seroconversion of thyroid autoimmunity and relation to islet autoantibodies, gender and HLA-DQ genotypes in children followed from birth because of increased genetic risk for type 1 diabetes.Methods: In 1874 10-year-old children followed in the Diabetes Prediction in Skåne (DiPiS) study, blood samples were analysed for autoantibodies against thyroid peroxidase (TPOAb), thyroglobulin (TGAb), ...

Background: Serotonine transporter gene (SLC6A4) polymorphism is one of genetic aspects of appetite and mood disorders.Objective and hypotheses: To determine the frequencies of 5-HTTLPR locus in promotor part of serotonine transporter gene (SLC6A4) polymorphism in children with different forms of obesity.Method: We examined 191 pubertal obese children. Patients were divided: Group 1 (simple obesity) 143 children, 14.3±1.8 year...

Background: Polymorphic genes Val158Met gene catechol-O-metiltrasferaz (COMT) are used to be responsible for less neurotransmitters utilization.Objective and hypotheses: To determine the peculiarities of neurotransmitters levels in children with obesity and different genotypes of COMT gene.Method: We examined 191 pubertal obese children. Patients were divided: Group1 (simple obesity) 143 children, 14.3±1.8 years, 30.6±2.8...

Background: Diabetics have an increased risk of cardiovascular disease. In young adults with type 1 diabetes mellitus (T1DM), cardiovascular events are more often the cause of premature death than nephropathy. In pediatric T1DM population, 35% have 2 or more cardiovascular risk factors (cvRF).Objective and hypotheses: This study aimed to determine the prevalence of traditional cvRF in children and adolescents with T1DM, and their association with the deg...