Endocrine Abstracts

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...

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...