ESPE Abstracts

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...

Introduction: The CCDC3 gene encodes for a protein expressed in endothelial cells and adipose tissue. Insulin increases its expression and, in turn, CCDC3 positively regulates adipogenesis and lipid accumulation. CCDC3 expression is increased in visceral adipose tissue from subjects with obesity. Gestational obesity can modify the metabolic programming in the offspring through epigenetic mechanisms. However, it is unknown whether the...

Introduction: Monogenic Type 1 diabetes (T1D) is a rare disease caused by pathogenic variant in a single gene leading to dysregulation of immune system. T1D is combined with other autoimmunity like immune cytopenias, inflammatory bowel disease, rheumatoid arthritis, atopic eczema, autoimmune thyroid disease etc in these patients. Pathogenic variants in the AIRE, FOXP3, LRBA, IL2RA, CTLA4, STAT3 and STAT1 genes have...

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

Background: Paediatric patients with sellar masses such as craniopharyngioma (CP) or cyst of Rathke’s pouch (CRP) frequently suffer disease- and treatment-related sequelae.Objective and hypotheses: We analysed the impact and prognostic relevance of initial hydrocephalus (HY) and hypothalamic involvement (HI) on long-term survival and functional capacity (FC) in children with CP or CRP.Method: Using retrospective analysis of pa...