ESPE Abstracts (2014) 82 P-D-3-3-748

Monogenic Diabetes in a Paediatric Population: Finding the Needle in the Haystack

M Mavinkurvea, N Johnstona, A Carrolla, C Mc Donnella,c, M M Byrneb & N P Murphya,b


aEndocrinology Department, Children’s University Hospital, Temple Street, Dublin, Ireland; bEndocrinology Department, Mater Misericordiae University Hospital, Dublin, Ireland; cEndocrinology Department, Adelaide and Meath National Children’s Hospital, Dublin, Ireland


Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).

Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY was confirmed.

Methods: We performed a retrospective chart review of children attending our service over a 5 year period. Clinical presentation, family history, autoantibody status and insulin therapy were noted. Gene sequencing was performed on genomic DNA.

Results: Six patients (2%), all initially diagnosed with type 1 diabetes, had MODY confirmed. Four of the six had no osmotic symptoms at presentation but had hyperglycaemia detected incidentally; one child presented in DKA. A positive family history was present in 5/6 cases. All children had negative autoantibody screens. Five of six children were initially treated with insulin and four were successfully switched to oral sulphonylurea therapy.

Conclusions: Childhood diabetes is not always type 1 diabetes and rarer aetiologies should be considered. Accurate diagnosis has implications for future management.

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