ESPE Abstracts

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

Background: Carbimazole is widely used in the treatment of Graves’ disease and is well tolerated but can produce adverse effects in 5% of cases. Urticaria, which can develop as a drug reaction to carbimazole responds to withdrawal of the drug and symptomatic management. Urticaria is also a rare manifestation of thyrotoxicosis and does not respond to treatment, but regresses rapidly with the control of underlying hyperthyroidism.Objective and hypothe...

Background: Secondary pseudohypoaldosteronism presents with hyponatremia and hyperkalemia due to a transient aldosterone resistance.Objective and hypotheses: We recommend a check of urea and electrolytes in all infants with urinary tract infection, dehydration and failure to thrive.Method: A 5 month old presented with a day’s history of poor feeding and two episodes of vomiting. He was afebrile with normal observations. His ur...

Background: Neonatal diabetes can present from birth to six months of age. This can often be confused with sepsis as there is considerable overlap of symptoms in this age group as illustrated below.Objective and hypotheses: The cases described illustrate the importance of blood glucose monitoring in sick infants presenting to emergency care settings we recommend an initial check of blood glucose concentrations in all sick infants who present to Accident ...