Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep34 | Diabetes | BSPED2015

Heterozygous glucokinase splicing mutation – identical genotype with variable phenotype in a single family

Ponmani Caroline , Banerjee Kausik , Keane Morgan

Background: Heterozygous loss of function glucokinase mutations causes MODY with fasting hyperglycaemia (>5.5 mmol/l). We report a 2 year girl with a glucokinase mutation who presented unusually with stress induced hyperglycaemia and normal fasting blood glucose levels.Case report: She presented with wheeze and was started on Salbutamol. Her blood glucose rose to 16 mmol/l with ketonuria. The hyperglycaemia was disproportionate to the severity of the...

ea0036P40 | (1) | BSPED2014

Neonatal diabetes: the great masquerader experiences from one hospital

Ponmani Caroline , Banerjee Kausik , Keane Morgan

Background: Neonatal diabetes can present from birth to 6 months of age. This can often be confused with sepsis as there is considerable overlap of symptoms in this age group as illustrated below. We recommend an initial check of blood glucose concentrations in all sick infants who present to accident and emergency.Case report: A 7-week-old, born to nonconsanguineous parents presented with a temperature of 38.6 °C and a 1 day history of poor feedin...

ea0033p39 | (1) | BSPED2013

Extreme hyperlipidaemia with poor glycaemic control in type 1 diabetes

Drew Samantha , Margetts Rebecca , Amin Rakesh , Hindmarsh Peter , Banerjee Kausik , Peters Catherine

Background: Poorly controlled diabetes is associated with dyslipidaemia including high cholesterol and LDL concentrations. This increases the long term risk of atherosclerosis and cardiovascular complications. In children and young people with type 1 diabetes, management with lipid lowering agents is controversial and to date long term evidence of benefit is limited. We report a case of severe dyslipidaemia and the impact of improvement in glycaemic control.<p class="abste...