Endocrine Abstracts

Introduction: Turner’s syndrome, also known as 45 X, or 45 X0, is characterised by the absence of one of the pair of X chromosomes. Clinical features are variable, and affected girls require regular review to identify and manage these. The Turner’s Syndrome Support Society has produced a health checklist for the management of Turner’s Syndrome, which provides a schedule for investigations. The aim of this audit was to evaluate whether we are meeting these standa...

Aim: To audit the current practice of investigations for children presenting with type I diabetes in our centre and identify delays in referral to secondary care.Standards: Guidelines published by ACDC: Care of the well child newly diagnosed with type I diabetes, NICE: “Diabetes (Type I and Type 2) in children and young people” August 2015 and local trust guidance “Paediatric diabetes - management of newly diagnosed well child”.<p...

Introduction: The International Diabetes Federation 2019 Diabetes Atlas states that the UK has the highest number of children and young people aged 0–14 with Type 1 Diabetes in Europe, with the incidence of cases observed to be rising on a national and international level. The National Paediatric Diabetes Audit (NPDA) 2020–2021 report identified countrywide inequalities between measures of diabetic health and treatment devices used within the paediat...

Background: Acute adrenal insufficiency is a medical emergency and patients at risk of adrenal crisis should be treated immediately with glucocorticoid replacement. Our aim was to ensure there were safety alerts in place for health care professionals managing steroid dependent patients, to highlight their risk of adrenal insufficiency, and therefore prevent delays in life saving treatment.Methods: Review of the electronic documentation of all the steroid...

Introduction: Two childhood cases of somatotroph pituitary adenomas caused by aryl hydrocarbon receptor interacting protein (AIP) mutations highlight the importance of screening for familial isolated pituitary adenoma (FIPA) genes and wider family implications.Case 1: A 13.5-year-old girl presented with 5 years growth acceleration and size ten feet, with no headache or visual disturbance. Examination: coarse facial features, large hands and feet...

Introduction: In 2014 the diabetes multidisciplinary team at Gloucestershire Royal Hospital Foundation Trust introduced dedicated annual review clinics for children with type I diabetes over the age of 8 years. Children receive their Consultant appointment, foot check, annual review bloods and structured education sessions in a single afternoon clinic visit. We present the results of two annual service evaluation projects, which have helped us improve the clinics and allowed u...

Introduction: Chromosome Xq26.3 microduplications have recently been identified, and explained this 11-year-old girl’s marked tall stature. Her severe phenotype illustrates X-linked acrogigantism (X-LAG) and demonstrates therapeutic benefit from growth hormone receptor blockade.Case: A 5.6-year-old girl presented with growth acceleration from 3 years and appearance of secondary dentition, greasy skin and blackheads from age 4. Past medical and famil...

Background: Early glycaemic control improves long-term outcomes in children with Type I diabetes. The NICE target for children with T1DM is HbA1c ≤ 48 mmol/mol. 2018 data from our newly diagnosed patients (pre-QI) demonstrated mean HbA1c 50 mmol/mol at 3 months and 62 mmol/mol at 12 months.Aims and methods: Our aim is to improve average blood glucose levels at day 28 post diagnosis and achieve a median HbA1c of <48 mmol/mol at 3 and 12 months p...