ESPE Abstracts

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Background: STAT1 mutations can cause an extensive spectrum of disease, varying from severe bacterial and viral infections to mild disseminated mycobacterial disease, also chronic mucocutaneous candidiasis. Many patients present with autoimmune manifestations as type 1 diabetes, hypothyroidism and systemic lupus erythematosus. There are risks of cancers and cerebral aneurysms.Aim: To present the clinical manifes...

Introduction: Achieving/maintaining effective hormone suppression is fundamental in treating Central Precocious Puberty(CPP). CPP patients are vulnerable to late dosing as they cannot self-administer and require clinic/hospital visits for injections, currently exacerbated by COVID-19. In children, the hypothalamic-pituitary-gonadal axis may rebound faster than elderly oncology patients, so hormone escapes are possible with late dosing. Additionally, the stimul...

Females with Turner syndrome (TS) have a reduced life expectancy of about 13 years and a substantial excess mortality; about 50% of this is the result of cardiovascular pathology. Hypertension affects 20-60% of females with TS and is the single most modifiable risk factor for cardiovascular disease. However, hypertension in TS is both under-diagnosed and under-treated. The presentation details a practical approach to monitoring blood pressure and managing hypertension in TS. T...

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

Background: Between 2011 and 2015, 294 children from 15 UK centres were randomised to the SCIPI study (SubCutaneous Insulin: Pumps or Injections?), which compares insulin delivery by pump to multiple daily injections, during the first year following diagnosis of type I diabetes. HbA1c is measured every 3 months, locally by (1) a ‘point of care’ device or a local laboratory and (2) a central laboratory. Since 2009 HbA1c assays have been calibrated against the Internat...

Background: Adults have a weight that is normal for them. This is referred to as their ‘set-point’ for weight. Studies have shown physiological protection of this set-point, explaining why most obese adults who diet eventually regain weight.Objective and hypotheses: We hypothesised that set-points for weight, and their physiological defence, are flexible in childhood but become fixed sometime around puberty. We aimed to show that obese children...

Background: Emerging evidence suggests FTO polymorphisms are associated with obesity-related comorbidities including type 2 diabetes (T2DM), hypertension and polycystic ovarian syndrome (PCOS). However association of FTO with other comorbidities such as obstructive sleep apnoea (OSA) in paediatric populations is less clear.Objective and hypotheses: To investigate the prevalence of obesity-related comorbidities according to FTO genotype in an obese paedia...

Introduction: Congenital Hyperinsulinism (CHI) is a rare disease of hypoglycaemia due to excess insulin production. Patients with both focal and diffuse forms of CHI may have severe hypoglycaemia not responsive to medical therapies. Such patients require lesionectomy or subtotal pancreatectomy with a corresponding necessity for enhanced glycaemic monitoring during the peri-operative period. Subcutaneous Continuous Glucose Monitoring (CGM) provides real-time hi...