Endocrine Abstracts

Background: Paediatric emergency departments saw an unusual increased incidence and severity of DKA in children with new onset diabetes in the COVID pandemic. The DIMPLES study (Diabetes Mellitus in children and young people presenting to the Emergency Department during the SARS-CoV-2 pandemic) explored this using retrospective multicentre data from 49 EDs, providing a unique perspective of paediatric diabetes from the frontline.Methods: We compared the ...

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...

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Case report: Two of six children born to unrelated parents presented in the neonatal period with salt-losing CAH due to compound heterozygosity in CYP21A2 (maternal...