hrp0086p2-p777 | Pituitary and Neuroendocrinology P2 | ESPE2016

Impaired Growth Hormone Secretion Associated with Large Hypothalamic Hamartoma

Sukarova-Angelovska Elena , Kocova Mirjana , Angelkova Natalija , Joseva Jasminka

Background: Hypothalamic hamartomas (HH) are rare non-progressive brain tumor malformations that occur early during brain development. Most of the cases are sporadic and nonsyndromic. Variation in size and location of the hamartoma within the hypothalamic region is not always associated with the severity of the clinical presentation. A wide range of symptoms could occur - from nonsymptomatic to severely affected cases that include seizures (mostly gelastic), behavioral difficu...

hrp0082p3-d3-938 | Puberty and Neuroendocrinology (1) | ESPE2014

Hyperandrogenism Doesn’t Increase the Insulin Resistance in Overweight and Obese Adolescent Girls with Polycystic Ovary Syndrome

Smetanina Natalija , Seibokaite Audrone , Valickas Raimondas , Verkauskiene Rasa

Background: Polycystic ovary syndrome (PCOS) is associated with metabolic abnormalities and increased insulin resistance (IR), which is closely associated with abdominal obesity and hyperandrogenism in adults. Some studies indicate that hyperandrogenism influences insulin resistance development in PCOS patients. Data on PCOS association with risks of metabolic disorders in adolescence are scars.Objectives: In this study we aimed to investigate androgen p...

hrp0089rfc5.2 | Thyroid | ESPE2018

Analysis of Chosen Polymorphisms rs7138803 A/G - FAIM2, rs7093069 C/T - IL-2RA, rs5742909 C/T - CTLA-4 in Pathogenesis of Hashimoto’s Thyroiditis in Children

Bossowski Artur , Gościk Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Aversa Tommaso , Corica Domenico , Krętowski Adam , Waśniewska Małgorzata

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...

hrp0082fc8.1 | Fat Metabolism | ESPE2014

Activation of the ER Stress Response in Cultured Human Umbilical Vein Endothelial Cells by Plasma Obtained from Prepubertal Obese Children

de Giorgis Tommaso , Di Silvestre Sara , Mohn Angelika , Di Pietro Natalia , Marcovecchio Maria Loredana , Cordone Vincenzo , Mandatori Domitilla , Chiavaroli Valentina , Bologna Giuseppina , Pandolfi Assunta , Chiarelli Francesco

Background: Childhood obesity is commonly associated with signs of endothelial dysfunction, characterized by impairment of insulin signaling and vascular NO availability. Recently both these features have been associated with endoplasmic reticulum (ER) stress, however the role of ER stress in the mechanism/s leading to vascular dysfunction in childhood obesity remains still to be established.Objective and Hypotheses: To evaluate ER stress and insulin-sti...

hrp0082p1-d1-232 | Thyroid | ESPE2014

Chosen Polimorphisms in FoxP3 Gene in Children and Adolescents with Autoimmune Thyroid Diseases

Bossowski Artur , Borysewicz-Sanczyk Hanna , Wawrusiewicz-Kurylonek Natalia , Szalecki Mieczyslaw , Wikiera Beata , Barg Ewa , Mysliwiec Malgorzata , Kucharska Anna , Bossowska Anna , Goscik Joanna , Ziora Katarzyna , Gorska Maria , Kretowski Adam

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...

hrp0084p3-722 | Diabetes | ESPE2015

Social Risk Assessment in Children with Diabetes Mellitus to Plan Medical and Social Care

Karpushkina Anna , Peterkova Valentina , Vartapetova Natalia , Dedyukina Elena , Philimonova Alla , Mikhailova Evgenia , Malievsky Oleg , Samoylova Yulia , Bashnina Elena , Khramova Elena , Shvabsky Oleg , Pankratova Maria , Starovoitov Mikhail

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...

hrp0094p2-398 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Evaluation of genomic copy number variations in the etiology of syndromic patients with diferences of sex development (DSD)

Antonio Diniz Faria Junior Jose , R. Moraes Daniela , L. Batista Rafael , Gomes Lisboa Natalia , D. Kulikowski Leslie , Y Nishi Miriam , B Mendonca Berenice , Domenice Sorahia ,

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...

hrp0092p3-191 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Hormone-Secreting Pituitary Adenomas in Children and Adolescents

Akulevich Natallia , Kuzmenkova Elena , Zhuravlev Vladimir , Solntsava Anzhalika

Background: Hormone-secreting pituitary adenomas in children and adolescents are rare.Methods: We report clinical course, management and outcome of 6 cases diagnoses in 2013-2019.Results: Patients (3M, 3F), aged 9,5 – 16,5 years at referral. In them, 3 ACTH-secreting adenomas (ACTHA) and 3 prolactinomas (PROLA) were recognized. The family history for endocrine tumors was negat...

hrp0089p3-p024 | Adrenals and HPA Axis P3 | ESPE2018

The P30L Mutation in the CYP21A2 Gene in a Girl with Congenital Adrenal Hyperplasia with Hidden Salt Loosing and Central Precocious Puberty

Akulevich Natallia , Boiko Julia , Mirabelli Silvestro , DeLuca Filippo , Wasniewska Malgorzata

In CAH due to 21-OH deficiency, phenotype-genotype correlation is known. However, the same genetic events may cause different clinical forms of the disease. A case of CAH associated with the P30L in the CYP21A2 gene in presented. The Caucasian girl was born normally and growing healthy till the age of 3.y., when her mother noticed pubic hair growth; at the age of 4 she had acne and an increasing sweating. At 6 y. of age, she was brought to paediatric endocrinologist f...

hrp0089p2-p242 | Growth & Syndromes P2 | ESPE2018

Unusual Clinical Manifestations in Turner Syndrome

Akulevich Natallia , Makarava Yulia , Ershova Larissa , Kunavitch Irina

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...