Endocrine Abstracts

Background: Approximately 1/3 of children newly diagnosed with type 1 diabetes (T1D) present with diabetic ketoacidosis (DKA). Despite the progress made in managing T1D, DKA continues to pose a substantial risk for existing and new patients with T1D. The British Society for Paediatric Endocrinology and Diabetes (BSPED) published guidelines for the management of DKA in 2021 and this protocol was adopted by Bristol Royal Hospital for Children.<p class="abste...

Introduction: Luteinising Hormone Releasing Hormone stimulation test (LHRH) is the gold standard test for diagnosing central precocious puberty (CPP). However, previous studies have advocated using a single LH (Luteinising Hormone) measure to diagnose CPP thus reducing the patient’s investigative burden.Method and aims: We assessed if i) baseline LH levels predicts response on LHRH test ii) the timing of basal LH me...

Background: Timely diagnosis and management of neonatal hypoglycaemia is important due to associated short and long-term sequelae including neurodevelopmental delay. Hyperinsulinism should be distinguished from other causes of hypoglycaemia as management and acceptable glycaemic parameters may be different.Aims: To characterize admissions with hypoglycaemia and assess the use of hypoglycaemia screen to detect hyperinsulinism.Method...

Background: Continuous subcutaneous insulin infusion (CSII) therapy is increasingly used for managing children with type 1 diabetes mellitus. Devices vary in design by manufacturer; however in general terms insulin is administered from the pump via a subcutaneous plastic catheter or needle. If the pump or the circuit malfunction and interrupt the insulin infusion, it can put the patient at risk of hyperglycaemia.Case: A 5-year-old boy with type 1 diabete...

Background: The National Institute for Health and Care Excellence (NICE) guidelines on childhood type 1 diabetes (T1D) do not recommend cholesterol screening. However, the National Paediatric Diabetes Audit (NPDA) has an annual cholesterol measure (>12 years) as a key outcome indicator. This is confusing for professionals managing children with T1D.Methods: An online survey was sent to 280 members of the Association of Children’s Diabetes Clinic...

Background: 17 α-hydroxylase enzyme deficiency is a rare condition and is responsible for < 1% of cases of congenital adrenal hyperplasia (CAH). Females present with delayed puberty due to reduced production of sex steroids and males can present with female external genitalia or with various degrees of genital ambiguity.Case presentation: A 4.5-year-old female – previously fit and well – presented to E...

Background: Wolfram Syndrome (WFS) is a rare genetic progressive neurodegenerative disorder caused by mutation in the gene encoding Wolframin, a protein located in the endoplasmic reticulum. WFS has an estimated prevalence of 1 in 770 000.The hallmark features are Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness(DIDMOAD) and neurodegeneration. Classic WFS1 is inherited in an Autosomal Recessive manner whereas the Non-classic form is Autosomal Dom...

Background: Childhood obesity and type 2 diabetes mellitus (T2DM) have increased proportionately in the last decade. Oral glucose tolerance test (OGTT) is recommended for paediatric patients with a BMI >98th centile (NICE, 2014) to identify T2DM or abnormal glucose homeostasis (AGH).Aim: To estimate the proportion of patients with AGH/T2DM seen in a tier 3 obesity service and evaluate the utility of the glycated haemoglobin (HbA1C) in detecting AGH. ...

Introduction: Despite an increasing incidence of adolescent type 2 diabetes mellitus (T2DM) with its associated morbidities and poor long-term prognosis, there remains uncertainty in its management. The National Institute for Health and Clinical Excellence (NICE) currently recommends initial lifestyle modifications alongside pharmacology management with metformin. Despite being shown to be effective in adults, little is known about the impact of lifestyle inte...

Introduction: DSD includes variations in the development of chromosomal, gonadal, or anatomical sex and can be subdivided into (XY DSD, XX DSD, and sex chromosomal DSD). Most presentations occur in the neonatal period with atypical genitalia or discordant phenotype and antenatal genotype, but later presentations occur raising complex diagnostic and clinical management issues.Objective: To characterise the etiological, cl...