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A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY

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Case presentation

A 63-year-old lean female of Asian ethnicity was referred to our service in 2006 with a 12-year history of well controlled type 2 diabetes (T2D) in the absence of micro- or macrovascular complications. She had undetectable β-cell antibodies. Her fasting glucose levels were 6–7 mmol/L and her glycated haemoglobin (HbA1c) level was 7.3% (56 mmol/mol). She was previously diagnosed with gestational diabetes mellitus (GDM) in three of five pregnancies, requiring insulin with the fourth pregnancy. All children were born without complication and of normal weight. Her father and five of six siblings were diagnosed with T2D. Over time, her management included diet and exercise, metformin 850 mg three times a day, modified release gliclazide 60 mg daily, and pioglitazone 45 mg daily. Ten years after referral, her HbA1c level was 7.6% (60 mmol/mol). She trialled basal insulin (glargine), but it was ceased as it was apparently ineffective. Her weight remained stable and her HbA1c levels showed little variation with escalating oral therapy. She developed postmenopausal osteoporosis and pioglitazone was ceased. Her daughter, who was also lean, was diagnosed with GDM during routine antenatal care. Given the autosomal dominant penetrance of diabetes in the family, she underwent genetic testing for maturity onset diabetes of the young (MODY) subtype 2 due to a glucokinase gene mutation (GCK-MODY),…