ESPE Abstracts

Introduction: The genomic disorders caused by rearrangements in region 5q35, including the NSD1 (nuclear receptor SET domain containing protein-1) gene have various phenotypes depending on presence of deletions, duplications or inversions. Patients carrying microduplication have microcephaly, short stature, and mild to moderate intellectual delay or learning disability.Patients and methods: A six-year-old boy wa...

Graves’ disease (GD) is hyperthyroidism associated with organ-specific autoimmune inflammation. GD occurs more frequently in adults than in children, however, pediatric patients are a therapeutic challenge due to cycles of remissions and relapses requiring constant monitoring at every stage of treatment administered. Dendritic cells (DCs) are considered a link between innate and adaptive immunity. DCs as antigen-presenting cells (APCs) are involved in antigen presentatio...

Introduction: The precise pathogenesis of Graves’ disease (GD) still remains unclear, especially in the field of immunological aspects. Thyroid infiltration by reactive T and B lymphocytes plays a crucial role in the course of autoimmune thyroid diseases (ATD). Previous pattern of inflammation process was characterized by the presence of two antagonistic groups of T effector or also called- helper cells: Th1 and Th2. Recently, more attention is paid to T...

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...

Introduction: Growth failure is a common consequence in small for gestational age (SGA) children.Patients and methods: The growth patterns and serum insulin like growth factor 1 (IGF1) concentrations before and after the 1st year under GH treatment of 32 short stature SGA born children have been evaluated. In addition, we investigated the insulin like growth factor 1 receptor (IGF1R) exon 2 as a hotspot for IGF1R genetic alterations. It is of note that n...

Introduction: Premature thelarche is considered a benign condition of breast development in prepubertal girls. It usually resolves after a certain period of time.Materials and methods: A 1.5 year old girl was referred to the pediatric Endocrinology department due to breast development which appeared two months prior to the visit.Results: Upon clinical examination the patient had Tanner breast stage M2-3 bilaterally, but otherwise a...

Background: Risk of developing germ cell tumors (GCTs) in disorders of sex development (DSD) patients with karyotypes contain Y-chromosome or it’s material (Y) increase with age. The appropriate timing for prophylactic gonadectomy in these patients is still controversial.Aim: To analyze the gonadal tumor incidence and histological assessment of gonads in DSD (Y) patients who were treated in a single institution between 1997 and 03/2018.<p class=...

Background: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. It has been demonstrated that the ZnT family plays an important role in the synthesis and secretion of different hormones. Furthermore, ZnT8Ab (zinc transporter-8 autoantibodies) together with GADAb (glutamic acid decarboxylase antibodies), IAA (insulin autoantibodies) and IA-2Ab (islet antigen-2 antibodies) are markers of auto...

Background: The etiology of Autoimmune thyroid diseases (AITDs), including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) is multifactorial and involves genetic and environmental factors. Family and population studies confirmed the strong genetic influence and inheritability in the development of AITD. Possible sex-related differences in overexpression of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, peptidyl arginine deiminase 4(PADI4) gene, the fat mass...

Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk o...