hrp0082p1-d1-231 | Thyroid | ESPE2014

The Association between rs4684677 T/A Polymorphism in Preproghrelin Gene And predisposition to Autoimmune Thyroid Diseases in Children*

Bosswski Artur , Moniuszko Anna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Jakubowska Ewa , Kretowski Adam

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 ...

hrp0082p2-d2-465 | Growth (1) | ESPE2014

Assessment of Omentin-1, Vaspin, and Visfatin Levels in Pediatric Patients with GH Deficiency

Sawicka Beata , Borysewicz-Sanczyk Hanna , Zasim Aneta , Jakubowska Ewa , Bossowski Artur

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...

hrp0082p3-d3-948 | Puberty and Neuroendocrinology (1) | ESPE2014

Hypothalamic Hamartoma as a Cause of Central Precocious Puberty in 4.5-Year-Old Girl: Case Report

Jakubowska Ewa , Sawicka Beata , Borysewicz-Sanczyk Hanna , Zasim Aneta , Bossowski Artur

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...

hrp0084p2-561 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs5742909 C/T – CTLA4, rs7522061 C/T – FCRL3, rs7138803 A/G – FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

Jakubowska Ewa , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

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...

hrp0082p3-d2-744 | Diabetes (3) | ESPE2014

Nine-Year-Old Boy with Wolfram Syndrome: Case Report

Jakubowska Ewa , Michalak Justyna , Florys Bozena , Mlynarski Wojciech , Zmyslowska Agnieszka , Szadkowska Agnieszka , Luczynski Wlodzimierz , Olszewska-Glowinska Barbara , Bossowski Artur

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...