hrp0094p2-406 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency

McGlacken-Byrne Sinéad M , Le Quesne Stabej Polona , Del Valle Torres Ignacio , Ocaka Louise , Gagunashvili Andrey , Crespo Berta , Moreno Nadjeda , James Chela , Bacchelli Chiara , Dattani Mehul , Williams Hywel J , Kelberman Dan , Achermann John C , Conway Gerard S

Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. In approximately 10% of cases, POI presents early with absent puberty or primary amenorrhoea. A genetic cause for POI can be found in up to 30% of women. Identified genes often relate to the complex biological processes occurring in fetal life which underpin normal ovary development and function in later adulthood.Objective: We aim...

hrp0097p1-324 | Growth and Syndromes | ESPE2023

PROGRES, a multi-country, non-interventional, prospective study of patients receiving human growth hormone treatment under routine clinical care: Study update

Geffner Mitchell , Maniatis Aristides , Ibañez Lourdes , La Torre Daria , Huang Carol , Darendeliler Feyza , Dattani Mehul , Maghnie Mohamad , Phillip Moshe , Horikawa Reiko , Gomez Roy , Viswanathan Shilpa , Carlsson Martin , Wajnrajch Michael

Objectives: Children with growth hormone deficiency (GHD) are usually treated with once-daily injections of recombinant human growth hormone (rhGH). Somatrogon is a long-acting rhGH (LAGH) approved in the EU and other countries for once-weekly treatment of children with short stature. The Pfizer Registry of Outcomes in Growth hormone RESearch (PROGRES) study will assess the long-term safety and effectiveness of once-weekly somatrogon and once-daily rhGH prepar...

hrp0082p1-d2-244 | Thyroid (1) | ESPE2014

Treatment of Graves’ Disease with Methimazole in Children Alters the Proliferation of Treg Cells and T Lymphocytes

Klatka Maria , Grywalska Ewelina , Wasiak Magdalena , Rolinski Jacek

Background: Graves’ disease (GD) is almost always the cause of hyperthyroidism in children. Studies carried out for recent years confirm an important role of T regulatory cells (Tregs) in the development of autoimmune diseases. However, the interactions between T-cell response and Treg proliferation in GD is still poorly understood.Objective and hypotheses: The aim of this research was the assessment of the in vitro proliferation of Treg ce...

hrp0086p2-p870 | Syndromes: Mechanisms and Management P2 | ESPE2016

Children with Down’s Syndrome Show Quantitative, Phenotypical and Functional Differences of Effector T-Cells Compared to Immunocompetent Controls

Schoch Justine , Schmidt Tina , Jung Anna-Maria , Kastner Michael , Abdul-Khaliq Hashim , Gortner Ludwig , Sester Martina , Rohrer Tilman

Background: Trisomy 21 is associated with an increased susceptibility to respiratory infections.Objective and hypotheses: For a more detailed characterization of the adaptive immune response, we analyzed the cellular and humoral immunity to specific pathogens in blood samples of 40 children with Down’s syndrome in comparison to 51 age-matched controls.Method: We quantitatively analyzed lymphocyte subpopulations using flow cyto...

hrp0095p1-36 | Diabetes and Insulin | ESPE2022

Human umbilical cord derived mesenchymal stem cells alleviate T1DM model via TGFBI-mediated T cells proliferation

Wu Chushan , Xu Tingting , Li Lu , zheng Rongxiu

Type 1 diabetes mellitus is autoimmune T cells mediated destruction of β-cells. Mesenchymal stem cells (MSCs) are considered a promising treatment for T1DM due to the strong immunosuppressive and regenerative capacity. However, the comprehensive mechanism is still unclear. Our previous study indicated that the transforming growth factor beta-induced gene (TGFBI) is highly expressed in human umbilical cord derived mesenchymal stem cells (hUC-MSCs), which is also implicated...

hrp0092t5 | Top 20 Poster | ESPE2019

Evaluation of Toll-like Receptor 2 Expression on T Lymphocytes in Patients with Graves' Disease in Relation to the Clinical Parameters

Klatka Maria , Grywalska Ewelina , Polak Agnieszka

Introduction: Graves'disease (GD) is a polygenic and multifactorial disease.The innate immune system is a complex network of structured cells and proteins, including the Toll-like receptors (TLRs), which are also expressed on the cells of the adaptive immune system.The aim was to assess the relationship between the expression of TLR-2 on the surface of T CD4+ and CD8+ lymphocytes in pat...

hrp0097p1-197 | Thyroid | ESPE2023

Effects of methimazole therapy on effector T and B regulatory cells in pediatric patients with Graves' disease

Stożek Karolina , Grubczak Kamil , Starosz Aleksandra , Bossowski Filip , Moniuszko Marcin , Bossowski Artur

Introduction: The incidence of autoimmune thyroid diseases (ATD) is constantly rising. Graves’ disease (GD) remains the most common cause of thyrotoxicosis in pediatric population, but the exact pathogenesis of GD is still not fully understood. The immunological basis of ATD assumes an imbalance between effector and regulatory T lymphocytes. B regulatory cells (Breg) are able to suppress the pro-inflammatory properties of effector T cells. Methimazole (M...

hrp0089p1-p085 | Diabetes & Insulin P1 | ESPE2018

T- and B-Lymphocytes Levels in Children with Type 1 Diabetes in Association with Candida Infection

Elkina Stanimira , Blajeva Svetla , Halvadzhiyan Irina , Botzova Venetziya , Petrova Chayka

Although type 1 diabetes (T1D) is most common autoimmune chronic metabolic disease in childhood, data about the role of T-Lymphocytes (T-Ly) and B-Lymphocytes (B-Ly) in children after the diabetes onset are still controversial. The aim of the study was to evaluate the serum levels of T– and B-Ly in children with T1D as a predisposing factor for genital candidiasis (GC).Material: We studied 71 children with T1D at the age of 6 to 18 years, divided in...

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 ...

hrp0089p1-p006 | Adrenals and HPA Axis P1 | ESPE2018

Altered DNA Methylation in Peripheral T-cells from Patients with Congenital Adrenal Hyperplasia

Karlsson Leif , Barbaro Michela , Ewing Ewoud , Gomez-Cabrero David , Lajic Svetlana

Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.Objective and hypot...