ESPE Abstracts

Introduction: Transition of young adults with diabetes has received much attention in recent years. Despite concerns regarding deterioration in glycaemic control and lack of engagement in services following transfer of care from paediatric to adult services, very few studies have looked at the effect of transfer on glycaemic control and clinic attendance as the primary outcome.Objectives: To establish the glycaemic control and rate of microvascular compl...

Background: BMI in childhood is an indicator of future health.Objective and hypotheses: To assess BMI distribution among children and young people with type 1 diabetes.Method: The National Paediatric Diabetes Audit (NPDA) collates height and weight data on children and young people with diabetes in England and Wales. BMI centiles were calculated using the UK 1990 reference population. Underweight was defined as <5th centile, ov...

Background: Screening guidelines for vascular complications in children with type 1 diabetes (T1DM) are based on results from Diabetes Control and Complications Trial (DCCT) and its follow-up, the Epidemiology of Diabetes Interventions and Complications (EDIC) trial. These studies established conclusively that early and intensive diabetes care improves long-term outcomes.Objective and hypotheses: To establish screening practices and prevalence of vascula...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

Achieving adequate glycaemic control in children with type 1 diabetes (T1D) is essential to reduce incidence and progression of microvascular and macrovascular complications. However, factors that influence glycaemic control remain to be understood. The present study aimed to evaluate clinical, personal, genetic and eating behaviour characteristics underlying glycaemic control in T1D. 325 T1D individuals aged 6 and 20 years and with at least 1 year of disease duration have bee...

Background: Maturity onset diabetes of the young 2 (MODY2) is phenotypically characterized by elevated fasting and post-prandial blood glucose (BG) levels and no diabetes auto-antibodies. Inheritance is autosomal dominant, and it is caused by variants in the glucokinase (GCK) gene with resetting of the pancreatic glucose sensor to a higher level. It is essential to detect MODY 2 patients as they do not require treatment.Objective...

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

Background and Aims: Type 1 diabetes mellitus (T1DM) belongs to the most common chronic diseases affecting children and adolescents. Technological advances have improved metabolic control over the past decades, thereby decreasing the risk of long-term complications. However, only a minority of patients meets the treatment goals of maintaining a glycated hemoglobin (HbA1c) level below 7.5% (58 mmol/mol). Webdia is an application for mobile devices developed by the fath...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...

Background: The benefits of levothyroxine (L-T4) therapy in subjects with mild SH (TSH between 5 and 10 mU/l with normal FT4 values) are controversial. Current recommendations in adults suggest to start on treatment selected groups of subjects with mild SH and evidence of atherosclerotic CV disease. Data in children are lacking.Objective and hypotheses: To investigate the effect of L-T4 treat...