ESPE Abstracts

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

Introduction: No consensus on vitamin D (VitD) deficiency screening in children and adolescents exists.Aim: To evaluate a sample of patients in whom VitD dosing was performed and determine the rationale for this assessment.Methods: Retrospective, longitudinal study of pediatric patients, from a Portuguese tertiary hospital, who had at least two 25(OH)D level blood sampling between ...

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Introduction: Since the beginning of the coronavirus pandemic, an increase in cases of new-onset type 1 diabetes (T1D) in children and adolescents has been observed in many countries, including Brazil.Objectives and Methods: In this descriptive study, we aimed to investigate the frequency of new-onset T1DM and the frequency and severity of diabetic ketoacidosis (DKA) in a referral Brazilian University Hospital, 38 months...

Background: Type 1 diabetes mellitus (T1DM) is an autoimmune disorder, which occurs mostly among children and adolescents. Armenia is a middle-low income country, where pediatric diabetic care is given centralized in three main centers. The 85-90% of diabetic children and adolescents are followed in the university hospital. During Covid-19 pandemic Armenia was under either lockdown or strict restrictions. The purpose of the current study is to assess the dynam...

Introduction: It is well known that low birth weight in children (born small for gestational age, SGA) predisposes them to the occurrence of obesity, insulin resistance (IR) and lipid disorders, observed even through the whole first decade of life. Thus, early diagnostics and prevention are very important. The HOMA index is used to assess insulin resistance (IRIHOMA). However, in some cases, high, prolonged postprandial insulin secretion is observed...

Introduction: Prolactin (Prl) - secreting cells and growth hormone (GH) - secreting cells are derived from the common somatomammotropic cells. Prl secretion depends primarily on the inhibitory effects of dopamine and the stimulatory effects of TRH and estrogens. The effects of other factors, especially the stimulation of the adrenergic system, are not well recognized. It is known that presynaptic stimulation of the alpha2-adrenergic receptor results in suppres...

Background: IPEX (OMIM #304790) is a rare and fatal, X-linked immune dysregulatory disorder caused by mutation in transcription factor FOXP3 that result in either quantitative or functional deficiencies of Tregs causing autoimmune disease and allergic inflammation. HSCT is the only curative therapy available for IPEX patients.Objective: Presented boy was born at 38th GW with birth weight 3380 g and birth length 50 cm. Three maternal brothers d...

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turner’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....