ESPE Abstracts

Background: Fatty liver disease in children and adolescents is the most common cause of chronic liver disease in many countries. Criteria for a diagnosis of pediatric metabolic associated fatty liver disease (MAFLD) are based on hepatic steatosis in ultrasound, blood biomarkers or liver biopsy in association with one of the three criteria: excess adiposity (overweight, obesity or abdominal obesity), prediabetes or type 2 diabetes, or evidence of metabolic dysr...

Introduction: Monogenic defects in the leptin-melanocortin pathway result in hyperphagia and severe, early-onset obesity. Knowledge of the natural history of anthropometric parameters in patients with monogenic obesity is essential for diagnosis. However, reliable data on early childhood weight and height development in affected patients are lacking. This study aimed to evaluate the history of height, weight, and BMI development in early childhood in a Europea...

Introduction: Diabetes type 1 (DM1) in children can result in lipid disorders due to insulin deficiency. Familial hypercholesterolaemia (FH) is a very common monogenic disorder with occurrence of 1:250 and it may lead to development of cardiovascular disease (CAD) in a very young age.Case report: Female patient with diabetes diagnosed at the age of 5, was referred to joint diabetes and lipid clinic due to high levels of ...

Background: It is observed from nearly 50 years that the incidence of diabetes worldwide is increasing. Also the incidence of type 1 diabetes, which is most common in paediatric population, rises across Europe.Objective and hypotheses: The aim of the study was to analyze the incidence of type 1 diabetes in Poland in Pomeranian province in the years 2005, 2010 and 2015. The hypothesis was an increased incidence of type 1 diabetes.Me...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycemia in childhood, and diagnosis and treatment of CHI is one of the most difficult aspects of modern endocrinology and diabetology. In half of infants suffering from congenital hyperinsulinism, which may require resection of pancreatic, potentially curable focal form can be found. Recently introduced diagnostic imaging using 18F-DOPA-PET allows for differentiation as a diffuse and focal...

Introduction: In diabetes type 1 damage of pancreatic beta cells results in insulin deficiency and it can lead to many clinical and biochemical complications, including hypertriglyceridemia. Triglycerides level over 500mg/dl significantly increases the risk of acute pancreatitis which, in combination with ketoacidosis, can worsen the prognosis of patients.A case report: A 9 year old patient was admitted to the Pediatric ...

Introduction: Diabetic ketoacidosis (DKA) in children is related with high risk of severe complications in the central nervous system such as cerebral oedema, hematoma and thrombosis.The occurrence of cerebral oedema in children with DKA is around 1: 100 and is higher in young children with severe acidosis and in whom DKA is the first manifestation of the disease.Case Report: 12-month-old patient d...

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide but rare in developed countries. Incidence of iodine deficiency may be rising due to increased popularity of vegan diets. There is minimal information on official health promotional webpages alerting to this risk.Case presentation: We present a 2.5yr old boy and his 6yr old sister from a family who adhere to a strict vegan diet and additional dietary restriction i...

Introduction: Patients with GATA6 gene mutations have broad spectrum of clinical presentation, but most of them have pancreatic agenesis or hypotrophy, exocrine pancreatic insufficiency, insulin-treated neonatal diabetes and cardiac malformations. Some of them have significant neurocognitive deficits, hypopituitarism, hypothyroidism, gut abnormalities, biliary atresia, gallbladder agenesis.Case Report: The 5.5 year old f...

Introduction: Immunodysregulation polyendocrinopathy enteropathy x-linked syndrome (IPEX) is characterized by systemic autoimmunity, typically beginning in the first year of life. Most commonly triad of symptoms of diarrhea, dermatitis and endocrinopathy is present.Case report: Presentatlion of male patient, born with body weight 3840 grams and 10 points in Apgar scale. In 13th day of life vomitting and tachypnoe were noted and in laboratory tests hyperg...