ESPE Abstracts

Background: Zinc transporter 8 autoantibodies (ZnT8Abs) together with glutamic acid decarboxylase autoantibodies (GADAbs), insulinoma antigen 2 autoantibodies (IA-2Abs) and insulin autoantibodies (IAbs) are markers of type 1 diabetes mellitus (T1DM). We studied the prevalence of ZnT8Ab in children with autoimmune thyroid diseases (AITDs) to assess the association of AITDs and T1DM at the serological level.Methods: The st...

Background: Many organs of human body are attacked by autoimmune processes and countless number of genes are involved in their pathogenesis. Diabetes mellitus type 1 (T1DM) attaching pancreas is a common autoimmune disease in childhood. Among autoimmune thyroid diseases (AITD) we can distinguish less frequent in children population- Graves’ disease (GD). Thyroid stimulating hormone receptor (TSHR) gene encodes membrane protein responsible for thyroid metabolism. Interfero...

Introduction: Elastography is a noninvasive imaging technique based on estimation of the tissue flexibility. There are two methods of elastography: Static Elastography and Shear Wave Elastography. Scale of deformation under pressure is presented as a colourful map – elastogram, where red colour signify soft tissues, green colour signify middle tough tissues and blue colour signify tough tissues. Analysis of elastograms enable us to present results as ROI1/ROI2 index. In a...

Introduction: Hematopoetic progenitor stem cells (HSCs, CD133+/CD45+) and very small embryonic-like stem cells (VSELs, CD133+/CD45−) can differentiate into specific immune cells. Some studies suggest that levels of HSCs and VSELs change during therapy with growth hormone (GH) or insulin-like growth factor 1 (IGF-1). GH deficiency (GHD), an endocrine disease connected with insufficient production of GH by pituitary gland, is tre...

Background: Wolfram syndrome is a rare progressive genetic neurodegenerative disorder connected with diabetes mellitus, diabetes insipidus, optic atrophy, deafness, neurologic, and endocrine abnormalities. Wolfram syndrome is inherited in autosomal recessive manner – due to mutation of the WFS1 gene which is located on chromosome 4.Objective and hypotheses: A 9-year-old boy, diagnosed with diabetes mellitus at the age of 5.5 years, was admitted to h...

Introducion: Autoimmune thyroid diseases (AITDs): Hashimoto's thyroiditis (HT) and Graves’ disease (GD) are common chronic autoimmune endocrine disorders in children. The mechanisms leading to the development of these diseases remain unknown, however scientific reports indicate that in addition to environmental factors, genetic background plays an important role. In our previous studies, we showed that some polymorphisms of the genes for IL2RA, FAIM...

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder, for which insulin-like growth factor-1 (IGF-1) generation test (IGFGT) is debated as a complementary diagnostic analysis. Diagnostic workup for SPIGFD varies geographically and diagnosis is delayed by the rarity of the condition (<1/10,000). Evaluation of real-world practices of IGFGT could help facilitate diagnosis and test use. Objective: to describe rea...

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65&pm;5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Introduction: Angiopoietins are necessary for development, differentiation and stabilization vessels progress. Angiopoient 1 (Ang-1) is responsible for vascular integrity, through stimulation of endothelial cell migration and adhesion, and inhibition of apoptosis. Action of angiopoietin 2 (Ang-2), in the absence of VEGF it Leeds to vascular regression, but in the presence of high VEGF concentration it stimulates angiogenesis. Stromal derived factor (SDF-1) play an important ro...