hrp0097p2-101 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Change in timbre of voice as one of the signs of hyperandrogenism in a 11-year-old girl- a case report

Sawicka Beata , Szarras-Czapnik Maria , Borysewicz-Sanczyk Hanna , Michalak Justyna , Stozek Karolina , Bossowski Artur

Background: Partial gonadal dysgenesis with a 46,XY karyotype (46,XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by abnormally developed external genitalia with or without Mullerian structures. The degree of abnormality varies from a female phenotype with clitoral hyperplasia to a male phenotype with isolated hypospadias. The incidence is unknown. In 20-30% of patients, gonadoblastoma or i...

hrp0095p2-84 | Diabetes and Insulin | ESPE2022

Assessment of serum concetrations of decorin, vaspin and kallistatin in children with type 1 diabetes

Polkowska Agnieszka , Bossowski Filip , Żelazowska-Rutkowska Beata , Marcinkiewicz Katarzyna , Nesterowicz Miłosz , Leoniuk Rafał , Bossowski Artur

The increasing knowledge on the functions of gastric peptides and adipokines in the body allows the assumption of their major role linking the process of food intake, nutritional status, and body growth, largely through the regulation of glucose metabolism and insulin resistance. The aim of the study was the assessment of serum levels of selected gastric peptides and adipocytokines in children with type 1 diabetes, with respect to the disease duration. The study included 88 ch...

hrp0095p2-289 | Thyroid | ESPE2022

Retrospective assessment of malignant thyroid nodules in a group of polish children and adolescents involving elastography

Borysewicz-Sańczyk Hanna , Sawicka Beata , Karny Agata , Bossowski Filip , Marcinkiewicz Katarzyna , Rusak Aleksandra , Dzięcioł Janusz , Bossowski Artur

Introduction: Thyroid nodules occur in 1.8% children which is not so often in comparison to adults (19–68%), but in children they appear to be at higher risk of malignancy (22–26% vs.5–10% respectively). It has been shown that the probability of thyroid nodules malignancy correlates with the presence of characteristic ultrasonographic features. Elastography - the noninvasive ultrasound imaging technique based on estimation of the tissue flexi...

hrp0092p1-148 | Thyroid | ESPE2019

Activating mutation M453V in receptor TSHR as a cause familial hyperthyroidism

Sawicka Beata , Stephenson Alexandra , Borysewicz- Sanczyk Hanna , Michalak Justyna , Stozek Karolina , Tanja Diana , Kahaly George , Paschke Ralf , Bossowski Artur

The most common hyperthyroidism in children is Graves' disease. The other rare cause of hyperthyroidism is activating mutation in receptor TSHR in thyroid gland.We would like to introduce a case of familial hyperthyroidism with a novel mutation M453V in the TSHR in three membersActually 11-year-old boy is a patient in outpatient clinic for first days after birth. During gestation his mother was treated with thyreostatic drugs b...

hrp0092p2-293 | Thyroid | ESPE2019

Analysis of Diabetes-Associated Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Bossowski Artur , Rydzewska Marta , Michalak Justyna , Bossowska Anna , Chen Shu , Black Sarah , Powell Michael , Furmaniak Jadwiga , Smith Bernard Rees

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...

hrp0089p1-p269 | Thyroid P1 | ESPE2018

The Association between TSHR, IFIH1 and ETV5 Polymorphisms with Graves’ Disease and Diabetes Mellitus Type 1 in Children

Stozek Karolina , Wawrusiewicz-Kurylonek Natalia , Goscik Joanna , Wasniewska Malgorzata , Aversa Tommaso , Corica Domenico , Kretowski Adam , Bossowski Artur

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...

hrp0089p2-p391 | Thyroid P2 | ESPE2018

Application of Elastography in Assesment of Different Benign Thyroid Lesions in Children and Adolescents

Borysewicz-Sańczyk Hanna , Dzięcioł Janusz , Sawicka Beata , Florczykowska Patrycja , Przychodzen Małgorzata , Bossowski Artur

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...

hrp0086p1-p640 | Growth P1 | ESPE2016

Analysis of Correlation between Stem Cells (CD133+/CD45+ and CD133+/CD45) and Anthropometric Parameters of Children with Growth Hormone/Primary Insulin-Like Growth Factor 1 Deficiency

Sawicka Beata , Moniuszko Marcin , Grubczak Kamil , Singh Paulina , Radzikowska Urszula , Mikłasz Paula , Dębrowska Milena , Bossowski Artur

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...

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...

hrp0097t3 | Section | ESPE2023

Prevalence of selected polymorphisms of Il7R, CD226, CAPSL and CLEC16A genes in children and adolescents with autoimmune thyroid diseases

Borysewicz-Sańczyk Hanna , Wawrusiewicz-Kurylonek Natalia , Gościk Joanna , Sawicka Beata , Krętowski Adam , Bossowski Artur

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...