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Article

Familial Focal Congenital Hyperinsulinism

14 Oct 2010

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11p15 within the embryonic pancreas, leading to an imbalance in the expression of imprinted genes. The probability of...

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PMID: 20943779
DOI: 10.1210/jc.2010-1524

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