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Diabet Med. 2003 Jun;20(6):483-5.

Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced translocation.

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Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK.



Childhood onset Type 2 diabetes in the UK has been reported in obese, insulin-resistant subjects. Investigation is necessary to exclude other aetiologies including genetic causes. The co-existence of diabetes and a chromosomal breakpoint may indicate the position of novel diabetes genes.


We describe a novel unbalanced translocation between Xq and 10p associated with amenorrhoea and onset of Type 2 diabetes in a non-obese Caucasian adolescent. There was no evidence of an autoimmune or known genetic aetiology for the diabetes and the phenotype was not typical of youth-onset Type 2. We therefore hypothesize that the translocation is implicated in the aetiology of the diabetes. This is supported by previous reports of diabetes as a feature of Xq deletions and Turner's syndrome and linkage to the Xq region in a genome-wide scan for Type 2 genes.


That this region may harbour a gene predisposing to Type 2 diabetes and that cytogenetic studies may be useful in investigating diabetes in children and young adults.

[Indexed for MEDLINE]

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