ESPE Abstracts

Introduction: The COVID-19 pandemic adversely impacted general access to healthcare. An association between SARS-CoV-2 infection and new-onset type 1 Diabetes (T1D), a more severe disease at diagnosis and a worsening diabetes control have been described.Aim: To evaluate COVID-19 pandemic’s impact in incidence and presentation of T1D on paediatric patients.Material and Methods:</strong...

Hypothyroidism is the most common thyroid disorder in children. It usually presents with nonspecific symptoms, that can be mild and occur slowly over time, compromising a timely diagnosis, with possible effects on pituitary gland, multiple organs and growth. In case of long-standing unrecognized hypothyroidism, myxedema or myxedema coma can occur, rare but severe conditions. This case report describes an adolescent presenting with extensive trunk and neck swelling. After exclu...

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) in children increased rapidly paralleled with the global burden of obesity and diabetes. Although most patients are nonalcoholic fatty liver (NAFL), once progress to nonalcoholic steatohepatitis (NASH), the risk of liver fibrosis and cirrhosis increase significantly. However, the pathogenesis of NAFLD, especially how NAFL progress to NASH is still unclear. Exosomal miRNAs have attracted att...

Turner syndrome(TS) is a chromosomal disorder which occurs in 1/2500 - 1/3000 among female live births, characterized by short stature, pubertal failure and cardiac defects. Mosaicism of 45X/47XXX is extremely rare and accounts for 1.7% of the TS cases. TS with 45X/47XXX is more likely to have spontaneous puberty. The case we present herein is a 13-years old girl who was admitted to Chuncheon sacred heart hospital due to severe anemia. She was diagnosed with Turner syndrom...

Introduction: It is known that excessive gestational weight gain can cause an adverse intrauterine environment and increase the risk of cardio-metabolic diseases in the offspring. Epigenetics could be one of the mechanisms involved in this regulation.Objective: We aimed to study the DNA methylation profile of umbilical cord tissue that is associated with gestational weight gain (GWG), and its relationship with cardio-met...

Introduction: Turner syndrome (TS) is a genetic condition with different phenotypic expressions depending on karyotype. Due to genetic prenatal testing, its prevalence is getting lower. The objective was to analyze the presence of different comorbidities associated with TS according to the karyotype and evaluate if there is follow-up in adulthood.Methods: Descriptive retrospective study including all the patients genetic...

Background: Sitosterolaemia, or phytosterolaemia, is a disorder of increased plant sterol levels in the body leading to a variable presentation including hypercholesteremia, xanthoma, atherosclerosis and haematological manifestations. Although considered rare, the prevalence is likely underestimated due to the variable phenotype. It is caused by recessively inherited mutations in ABCG5 or ABCG8 which encode the sterol efflux transporters in the gut. Hyperchole...

Noonan syndrome (NS) is an autosomal dominant, variably expressed, multisystem disorder with an estimated prevalence of 1 in 1000–2500. In 2001, PTPN11 was the first gene associated to Noonan syndrome; now, at least 20 other genes have been discovered especially in the RAS–MAPK signalling pathway. More recently, missense mutations in RIT1 have been reported as causative of NS. A six-years female patient was referred to our Hospital for short stature (<-2 sds) an...

Background and Aims: Initial presentation of type 1 diabetes (T1D) is associated with different level of diabetic ketoacidosis (DKA). Four pancreatic islet cell autoantibodies (Abs) mostly associate with T1D - glutamic acid decarboxylase antibodies (anti-GAD65), tyrosine phosphatase antibodies (IA 2-Ab), insulin autoantibody (anti-IAA) and zinc transporter 8 antibodyAim: To evaluate the prevalence of DKA, the frequency o...

Introduction: Inactivity in children is associated with cardiometabolic risk, while physical activity improves cardiometabolic health. We aimed to determine the association between epicardial fat (Efat), interventricular septal and left ventricular posterior wall thicknesses (IVSthickness and LVPWthickness) with physical activity/inactivity, non-sedentary/sedentary behavior, body composition, and cardio-metabolic parameters in children classified as being: ina...