hrp0089p1-p268 | Thyroid P1 | ESPE2018

Analysis of Zinc-Transporter ZnT8 Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Michalak Justyna , Rydzewska Marta , Bossowski Artur

Backgroud: 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.Material and methods: The study was performed in the group consisting of patients with 44 Graves’ disease (...

hrp0092p2-278 | Thyroid | ESPE2019

A 10- Year-Old Girl with Thyroid Hormone Resistance (βTHR)- Case Report

Bossowski Artur , Michalak Justyna , Sawicka Beata , Sanczyk Hanna Borysewicz- , Kolanowska Monika , Kubiak Anna , Jazdzewski Krystian

Introduction: Thyroid hormone resistance (THR) is a rare syndrome which is characterized by reduced response to thyroid hormones at tissue level. The disorder is caused by genetic mutation in the thyroid hormone receptor. The most common are a heterozygous thyroid hormone β (THRβ) gene mutations. Laboratory tests usually show normal or elevated level of thyroid- stimulating hormone (TSH) and high concentration of thyroid hormones (T3 and T4).<p c...

hrp0089p3-p224 | Growth &amp; Syndromes P3 | ESPE2018

A 14-Year-Old Boy with Simpson-Golabi-Behmel Syndrome – Case Report

Sawicka Beata , Jakubiuk-Tomaszuk Anna , Borysewicz- Sańczyk Hanna , Michalak Justyna , Bossowski Artur

Simpson-Golabi-Behmel syndrome is a condition which classified as an overgrowth syndrome and affects many parts of the body and occurs primarily in males. Infants have macrosomia at birth and continue to grow and gain weight at an unusual rate. The incidence of Simpson-Golabi-Behmel syndrome is unknown. Mutations in the GPC3 gene are the most common cause of Simpson-Golabi-Behmel syndrome. About 250 people worldwide have been diagnosed with this disorder. About 10 percent of p...

hrp0082p1-d2-23 | Autoimmune Endocrine Disease | ESPE2014

Analysis of Zinc Transporter ZnT8 Autoantibodies in Children and Adolescents with Autoimmune Thyroid Diseases

Bossowski Artur , Borysewicz-Sanczyk Hanna , Glowinska-Olszewska Barbara , Sawicka Beata , Bossowska Anna , Michalak Justyna , Furmaniak Jadwiga

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that ZnT family plays an important role in the synthesis and secretion of many hormones. ZnT8 autoantibodies (ZnT8 Ab) next to glutamic acid decarboxylase antibodies (GAD Ab), insulin autoantibodies (IAA), and islet antigen-2 antibodies (IA-2 Ab) have been described as markers of autoimmune process ...

hrp0094p2-56 | Adrenals and HPA Axis | ESPE2021

Effect of treatment of double precocious puberty in a 9-year-old girl- case report

Sawicka Beata , Borysewicz-Sańczyk Hanna , Michalak Justyna , Bossowski Artur ,

Non-classic form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common disorder, which is associated with the use of hydrocortisone. Clinically patients present the GnRH-independent precocious puberty with rapid growth and advanced bone age. Inappropriate inhibition of androgen secretion can induce precocious central puberty. We present the case of 9-year-old girl, who was treated of the congenital adrenal hyperplasia due to 21- hydroxylase defi...

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...

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...

hrp0092p2-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A 10-year-old Girl with Primary Hypoparathyroidism and Systemic Lupus Erythematosus (SLE)

Borysewicz-Sanczyk Hanna , Sawicka Beata , Michalak Justyna , Wójtowicz Jerzy , Dobrenko Elzbieta , Konstantynowicz Jerzy , Kemp Elizabeth , Thakker Rajesh , Allgrove Jeremy , Black Sarah , Chen Shu , Furmaniak Jadwiga , Rees Smith Bernard , Bossowski Artur

Introduction: Parathyroid Hormone (PTH) is one of the principal regulatory hormones for calcium and phosphate homeostasis. Reduced PTH concentration in hypoparathyroidism is characterised by hypocalcaemia and hyperphosphataemia.Case Presentation: We report a ten-year-old girl who was admitted to the Department of Paediatrics, Endocrinology, Diabetology with Cardiology due to repeated seizures, hypoalcaemia with suspected...

hrp0086p1-p237 | Diabetes P1 | ESPE2016

The Prevalence of Diabetic Ketoacidosis in Children with New-Onset Type 1 Diabetes Mellitus

Niechcial Elzbieta , Gertig-Kolasa Anna , Krzysko-Pieczka Izabela , Skowronska Bogda , Stankiewicz Witold , Michalak Michal , Fichna Piotr

Background: Children at type 1 diabetes (T1DM) diagnosis can develop ketoacidosis (DKA), a life-threatening condition, which is most frequently associated with the onset of diabetes in children aged <5 years.Aims and objectives: We studied the prevalence of DKA at T1DM diagnosis and the frequency of partial remission (PR) in children from Wielkopolska province, Poland.Method: The cohort comprised 735 children aged 0–18 yea...