ESPE Abstracts

Background: Ghrelin and obestatin are two gastrointestinal peptides obtained by post-translational processing of a common precursor, preproghrelin. mRNA expression for preproghrelin was found in autoimmune thyroid diseases (AITDs) in previous studies. There are papers, where a role of preproghrelin polymorphism on various immunological diseases was determined, but nothing is known about its influence on the AITDs.Objective and hypotheses: The aim of our ...

Introduction: GH deficiency (GHD) is a disease, in which the pituitary gland does not produce enough GH. GHD has a variety of different negative effects at different ages; e.g. it can result short stature and increased adiposity. Excessive intra-abdominal fat is associated with an increased risk of cardiovascular disease. In recent years new adipokines such as:omentin-1, vaspin, and visfatin have been described. Omentin-1 is decreased in obesity in contrast to increased vaspin...

Background: Hamartoma is a benign, focal malformation, which is composed of tissue elements normally found at that site which are arranged chaotically within the mass. It may occur in many different parts of the body and often is undetected. Hypothalamic hamartoma, unlike most such growths, is symptomatic. It may cause gelastic seisures, visual problems, rage disorders and early onset of puberty.Objective and hypotheses: A 4.5-year-old girl was hospitali...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

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...

In Functional Intensive insulin therapy (FIIT), despite the using injection or continuous subcutaneous insulin infusion (CSII), the golden standard in meal insulin programing is carbohydrate food counting. On the other hand more and more study have shown how fat and protein meals raise postprandial glycaemia for long time than 3 hours. It was also observed that prolonged insulin delivery in normal and square-wave bolus for a mixed meal helps to normalize glycaemia profile if c...

Introduction: Down syndrome (DS) is a chromosomal disorder. Children with DS have different height and weight patterns compared to children without DS. The aim of our study was to compare anthropometric parameters (expressed in standard deviation score-SDS) of people with DS using charts for DS and population (P) charts.Materials and Methods: The study group consisted of 114 patients with DS (64 girls), aged 4 months – 36 years (average age: 8.2 yea...

Introduction: Adrenoleukodystrophy (ALD) is a genetic diseases classified in the group of peroxisomal disorders caused by mutations in ABCD1, a gene located on the X chromosome. It is the most common monogenetically inherited neurodegenerative diseases. X-ALD is an inborn error of metabolism characterized by impaired peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) with a heterogeneous clinical spectrum. VLCFA accumulate principally in the CNS...

Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorder of the young women, and it could influence both physical and psychological wellbeing. As a consequence of obesity and hirsutism lower sexual attractiveness, higher emotional distress as well as higher depression score is frequently observed.Study Objective was to evaluate anxiety and depression score as well as the body esteem and stress perception ...

Relationship between polycystic ovary syndrome (PCOS) and thyroid autoimmunity has been recently suggested by several authors. Autoimmune thyroiditis (AIT) is the most prevalent autoimmune disease and link between AIT and PCOS has been reported in adult women. There is a hypothesis that functional autoantibodies could contribute to the development of PCOS. The aim of the study was to evaluate the prevalence of thyroid autoimmunity in adolescent girls with PCOS. Forty five adol...