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Endocrine Abstracts (2005) 10 DP4

1Institute of Child Health, University of Birmingham, Birmingham , 2Birmingham City Hospital, Birmingham , 3Birmingham Children’s Hospital, Birmingham , 4West Middlesex University Hospital, London , 5Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter , 6Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford , 7Newcross Hospital, Wolverhampton, United Kingdom.


Type 2 diabetes (T2DM) has emerged in youth, disproportionately affecting ethnic minorities. Maturity Onset Diabetes of the Young (MODY) has been reported in exclusively white UK children. We report the first UK Asian children with MODY, highlighting differences from T2DM.

Child 1 is a slim (BMI SDS−0.14) female of Indian descent without acanthosis nigricans (AN). She presented aged 12 years with polydipsia and polyuria (HbA1c 8.6%). Hypoglycaemia with insulin and sulphonylurea prompted cessation of treatment. The dominant family history of diabetes, and elevated HbA1c suggested the diagnosis of HNF1A- MODY. Testing detected a heterozygous P291fsinsC mutation co-segregating with diabetes in the family.

Child 2 is a female of Indian descent (BMI SDS+1.6) without AN. She presented aged 8 years with asymptomatic hyperglycaemia. Oral glucose tolerance test (OGTT) showed diabetes (fasting glucose 6.3 mmol/l, 2 hour 16.6 mmol/l, HbA1c 8.6%). She responded to Gliclazide, with improved glucose results. The dominant family history of diabetes and glycosuria, suggested HNF1A-MODY. Testing detected a heterozygous P291fsinsC mutation co-segregating with diabetes in the family.

Child 3 is a slim (BMI SDS+0.44) male of Pakistani descent without AN. He presented aged 14 years with asymptomatic hyperglycaemia. OGTT showed impaired glucose tolerance (fasting glucose 5.8 mmol/l, 2 hour 8.4 mmol/l, HbA1c 6.8%). He responded to diet alone. The family history of diabetes, including permanent neonatal diabetes, suggested Glucokinase MODY. Direct sequencing of the GCK gene detected a heterozygous R397L mutation.

MODY is seen in Asian families. Absence of obesity, and absence of acanthosis nigricans, with apparent dominant family history of diabetes, suggest MODY; though family history does not discriminate between MODY and T2DM. Correct diagnosis is essential as these conditions differ in prognosis and management.

Volume 10

196th Meeting of the Society for Endocrinology and Society for Endocrinology joint Endocrinology and Diabetes Day

Society for Endocrinology 

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