Endocrine Abstracts

Introduction: ABCC8 gene mutations cause transient and permanent forms of neonatal diabetes with variable modes of inheritance. Almost all patients present with diabetes under 6 months old with rare cases upto 12 months. We report 2 siblings with diabetes and identical homozygous mutations of the ABCC8 gene, one of whom presented classically under 6 months old and the other unusually at 3 years of age.Cases: The index case, a British Pakistani f...

Introduction: Bolus calculator glucose meters (BCGM) facilitate self-management of patients with type 1 diabetes (T1DM). However, their effectiveness is dependent on the accuracy of the data entered, use of their smart functions and adherence to the insulin dosages advised. This study investigates whether optimising the use of BCGM is associated with better glycaemic control in children and adolescents with T1DM, and obstacles to preventing their effective use.<p class="ab...

Background: About one in 3000 babies born in the UK have congenital hypothyroidism (CHT), which is usually due to an agenesis of the thyroid gland, but some are due to dyshormogenesis, which can be transient or permanent.Method: Retrospective analysis of medical notes of infants referred as ‘suspect’ congenital hypothyroidism from the newborn blood spot screening centre to the paediatric endocrinology service at our hospital from January 2002 t...

Background: To assess whether the improved service provision introduced under the new Paediatric Diabetes Best Practice Tariff, which includes increased contact with the multi-disciplinary team and greater access to psychology support, has impacted positively on the quality of life (QoL) and glycaemic control of young people with diabetes.Method: In 2011, n=55 children and young people with diabetes completed the Generic Paediatric Quality of Li...

Background: HbA1c remains the most powerful outcome measure for children and young people with diabetes. It is collected at every clinic visit and is used for individualised discussions around diabetes control and for national benchmarking. However, despite DCCT and IFCC standardisation, there is still no overall consensus as to the most appropriate methodology, particularly when assessing patients with haemoglobinopathies that may affect HbA1c measurement.<p class="abstex...

Introduction: Outcomes of the National Paediatric Diabetes Audit have shown that patients of Black ethnic origin have poorer glycaemic control. Additional professional contacts mandated by the Best Practice Tariff aim to improve glycaemic control in paediatric patients with diabetes mellitus, but do not allow for differing needs.Aim: To evaluate whether additional professional support for paediatric diabetic patients are targeted at those with worst glyc...

Introduction: Effective communication between care providers and parents/carers is fundamental for the management of children with Type 1 diabetes. National guidelines highlight the importance of communicating effectively with parents of limited understanding of English. This study evaluates whether parental language proficiency is related to glycaemic control in a paediatric diabetes clinic serving an inner city multi-ethnic population.Method: Routine d...

Introduction: Acute renal failure (ARF) is a rare but life-threatening complication of severe diabetic ketoacidosis (DKA) in children.Aim: To characterise the presentation, treatment and clinical course of children with DKA complicated by severe ARF requiring renal support.Method: Retrospective notes review of patients aged <16 years admitted in 2011–2016 to 3 UK regional paediatric intensive care units (St George’s H...

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to Thyroid Hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.Results: A 6-year-old...

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to thyroid hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.<p cl...