ESPE Abstracts

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

Introduction: Allgrove syndrome is a rare autosomal recessive disorder involving alacrymia, achalasia, Addison’s disease (3A) and neurological disorders (4A), it results from mutations in the AAAS gene located on chromosome 12q13 which codes for a protein known as ALADIN (ALacryma Achalasia aDrenal Insufficiency Neurologic disorder). Alacrymia is diagnosed by Schirmer’s test, achalasia by esophageal manometry while adrenal insufficiency is confirmed ...

Introduction: Hereditary causes of rickets often take longer to be diagnosed because they are not very frequent. 1α-hydroxylase alteration is the most frequent vitamin D-dependent rickets. A delay in the treatment associated to a late diagnosis generates an abrupt parathormone deficiency. When initiating treatment, these patients have a risk of hungry bone syndrome.Case: 2-year-8-month-old male patient, with a history of psychomotor...

Background: Paediatric nephrotic syndrome has an estimated incidence of 2 per 100,000 children per year and type 1 diabetes had a reported incidence of 9.5 per 100,000 habitants in Portugal (2018 data). To the best of our knowledge, the simultaneous occurrence of nephrotic syndrome and type 1 diabetes is rare – we found 13 published cases in paediatric age worldwide. Clinical case: A 5-year-old boy with personal history of nephrotic syndrome was admitted ...

Background: Since December 2019, the world has witnessed a global pandemic due to SARS-CoV-2 coronavirus (COVID-19), which has led to lifestyle changes as a result of Public Health Regulations and Guidelines introduced by governments worldwide.Objective: To determine the body mass index (BMI) trajectory in children and adolescents with overweight and obesity with respect to the COVID-19 outbreak in Greece.<p class="a...

Background: Obesity in childhood and adolescence represents one of the most important public health problems. Over the last decade, the widespread use of personal digital technologies, such as smart mobiles and accelerometers, create new possibilities for collecting bevavioral data objectively.Objective: To evaluate the body mass index (BMI) trajectory after at least one month’s use of the BigO system.<p class="...

Background: Since 1975 the prevalence of obesity has tripled. As one of the habits of a healthy lifestyle is to reduce the fast sugars in our meals, the supply of non-nutritive sweeteners in the food supply has increased by offering sweeter meals without extra calorie intake.Objectives: To explore the characteristics of students and young adults’ lifestyle habits and consumption of non-nutritive sweeteners and their...

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...

Introduction: CAH is a chronic inherited disease which needs the treatment for the whole life. This situation forms the necessity of a proper patient- doctor relations: not only compliance, but rather informed cooperation. The neonatal screening for CAH allowing the early diagnosis and treatment and availability of internet sources of professional knowledge is the new challenge in the way of education of patients. In Poland there is still observed the dominanc...

Aims: In children with new-onset type 1 diabetes mellitus (T1D), insulin dose regimens vary substantially. According to current ISPAD recommendations, the initial total daily dose (TDD) should range from 0.7 to 1.0 IU/kg BW/day. Adjusting TDD to achieve normal blood glucose concentration can take several days. The primary objectives of our INSENODIAB (INsulin SEnsitivity in New Onset type 1 DIABetes) study were to assess how patient characteristics influence i...