ESPE Abstracts

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...

Background: Shear wave elastography (SWE) is an ultrasound diagnostic method evaluating tissue’s stiffness. It has been demonstrated that the mechanical properties of tissue involved in the pathological process are changed and SWE might indicate regions of the examined tissue covered by the disease. In adults SWE is used to differentiate benign and malignant nodules in thyroid gland, however there are still few studies on application of SWE in thyroid di...

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...

Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3...

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. Moreover, recently ZnT8 was described as a newly islet autoantigen in type 1 diabetes.Materials and methods: We studied the expression of ZnT8 transporter in thyroid tissues from patients with im...

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by extreme short stature, low serum IGF-1 and normal/elevated serum growth hormone (GH). Some patients receive GH treatment before recombinant human IGF-1 (rhIGF-1; Increlex® [mecasermin]). We investigated rhIGF-1 effectiveness and tolerability in patients previously treated with GH versus GH naïve patients at rhIGF-1 initiati...