ESPE Abstracts

Objectives: Monogenic diabetes and congenital hyperinsulinism (CHI) and are common disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. Genetic testing for monogenic diabetes and CHI is important for patient care. We aimed to delineate genetic and clinical manifestations of monogenic diabetes and CHI diagnosed by targeted-exome sequencing (TES).Methods: Nine proba...

Objectives: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without a mineralized bone to early loss of teeth without bone symptoms. We aimed to report a patient with HP presenting with fibrous dysplasia.Methods:</st...

Objectives: Diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic state (HHS) are potential life-threatening emergencies of diabetes mellitus (DM). DKA and HHS may coexist, making the treatment difficult. With increasing rates of childhood obesity and pediatric type 2 DM, cases of mixed HHS and DKA are expected to occur more frequently than before. But the frequency and implications of combined DKA/HHS in children/adolescents are not yet well known. We ai...

Objective: Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction, severe obesity and metabolic dysfunctions. The aim of this study was to describe endocrine and metabolic profiles in PWS children and young adults.We also investigated the differences in clinical outcomes according to genotype.Methods: Data of 64 children and adults with genetically verified PWS aged mo...

Background: Metabolic syndrome and impaired bone health are common complications in childhood cancer survivors, and both are possibly related with decreased physical activities.Objective and hypotheses: We aimed to evaluate the prevalence rates of metabolic syndrome and osteopenia in adolescent/young adult childhood cancer survivors. We also aimed to investigate the relationship between physical activity and these complications.Met...