Endocrine Abstracts

Background: Although it accounts for small number (1–2%) of diabetes cases, MODY is especially important to be picked up by health care providers because of the implications of the correct diagnosis on clinical management and family counselling. MODY should be suspected when a patient <25 years old presents with symptoms of diabetes, who has a family history of diabetes/ MODY, with negative diabetes autoantibodies screen, and/or suboptimal response to insulin.

Case 1: A 15year old girl who was diagnosed of diabetes after presenting with classical diabetes symptoms with hyperglycaemia and positive family history of diabetes not in acidosis and was started on basal insulin. Diabetes related antibodies were negative. On follow up, HbA1c remained <48 mmol/L, and there was no response to insulin therapy with high blood glucose around 20 mmol/L but low ketones. Urinary C-peptide 7.83 nmol/l She scored 7.2% on MODY calculator and monogenic diabetes genetic test was positive for the HNF1A mutation. Glycaemic control improved on replacing insulin with gliclazide.

Case 2: an 8 years old boy who was referred to us from outpatient clinic because of an incidental finding of an HBA1C of 53. There was strong positive family history of MODY on the maternal side. His mum had the glucokinase mutation. 2 of his maternal uncles aged 28 and 14 years also had a confirmed diagnosis of MODY. The genetics results for this patient are still pending.

Conclusion: MODY is a rare and yet the commonest form of monogenic diabetes. It is characterised by onset before 25 years, absence of β-cell autoimmunity and sustained pancreatic beta cell function. So, patients with MODY do not usually have diabetic ketoacidosis (DKA). It has autosomal dominant pattern of inheritance so there is often a family history of diabetes and there is a 50% risk of the offspring to have the condition. Early treatment decreases the risk of micro and macrovascular complications of diabetes, so early detection and appropriate management are paramount to sustain quality of life of the affected children when they enter adulthood.