Endocrine Abstracts

Young people with Type 1 Diabetes Mellitus (T1DM) can achieve improved glycaemic control by using technology. T1DM technology is steadily improving however access to it remains variable across the UK. Those from ethnic minorities and deprived areas are less likely to access technology and more susceptible to developing complications of diabetes. Understanding the reasons for health inequalities is essential to facilitate use of available technology.Aim: ...

Background: Type 1 diabetes (T1D) is characterised by autoimmune destruction of pancreatic beta cells leading to insulin deficiency. Prompt referral and treatment is important to prevent diabetic ketoacidosis (DKA) which remains the commonest cause of death in this condition. NICE guidance 2004, advises same day referral to specialist paediatric Diabetes team when childhood diabetes is suspected.Aim: The aim was to audit the timeliness of referrals of ch...

Background: Bilateral cataracts are rarely the initial symptom of diabetes mellitus (DM). Patients with DM who developed cataracts usually have DM for many years. The prevalence of early cataracts in paediatric DM ranges between 0.7 and 3.4%. We report a case of DM diagnosis following onset of blindness due to new bilateral cataracts.Case description: 13-year-old Caucasian girl presented with rapidly declining vision for 2 months. She was blind 2 weeks p...

Objectives: Noonan Syndrome (NS) is an autosomal dominant multi-system disorder characterised by short stature (SS), distinctive facial features and cardiovascular abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway have been identified in NS including 5 recently described novel LZTR1 variants. We identified 2 novel LZTR1 variants in patients with features of growth hormone insensitivity and NS. The molecular function of LZTR1 ...

Objectives: The Department of Health introduced a Best Practice Tariff (BPT) to finance Paediatric Diabetes Services in England, in response to variation in service provision and outcome. The tariff became mandatory in April 2013 and depends on achievement of 13 quality standards (QS). The West Midlands (WM) Region covers an area of 5020 square miles, where 2700 Children with Diabetes receive care from 15 Hospital Trusts who are members of the Regional Paediatric Diabetes Netw...