ESPE Abstracts

Background: The prevalence of type 2 diabetes mellitus (T2DM) in children and young people (CYP) is increasing in the United Kingdom and worldwide. There is a lack of evidence of patient and parent opinions of the care provided in T2DM and how care should be tailored to meet their needs. The aim of this study was to analyse the Parent and Patient Reported Experience Measures (PREM) survey responses specifically from patients with T2DM and their families in ord...

Background: There is limited reporting of the impact of genital difference on early childhood experience, although the young person’s viewpoint should be at the core of patient centred clinical decision making. The experience of girls living with Congenital Adrenal Hyperplasia (CAH) may differ according to context, being influenced by interactions within the family, with specialist teams as well as prevailing social values. Clearly there is a need to inv...

Background: The association between HNF1A-MODY and vascular complications including stroke has previously been identified in adults but to date there have been no reported paediatric cases published.Description: We present the case of an Eritrean 13-year-old girl, who was admitted with an acute ischaemic stroke, on a background of Diabetes Mellitus (Presumed Type 1) diagnosed the previous year. Aside from being on multip...

Introduction: Monogenic obesity is characterised by early-onset, severe obesity ((body mass index) BMI >99.6th centile) and hyperphagia. Access to genetic testing is limited, thus prevalence may be underestimated. Genes in the leptin-melanocortin pathway, related to the hypothalamic control of food intake, are frequently involved. We report results obtained via the Rare Obesity Advanced DiagnosisTM genetic testing program.<p class=...