congenital hyperinsulinism

Full Definition

A rare genetic condition characterized by dysregulated insulin secretion from pancreatic beta cells, leading to persistent severe hypoglycemia in newborns and infants. The condition may be caused by mutations in genes regulating insulin secretion, with varying phenotypes from mild to life-threatening forms. Focal forms may be amenable to surgical resection, while diffuse disease often requires near-total pancreatectomy. Medical management includes diazoxide, octreotide, and frequent feeding protocols.

Usage

Usage note: Specify focal vs. diffuse forms as treatment approaches differ significantly.

In Context

• "Genetic testing confirmed congenital hyperinsulinism due to a KATP channel mutation." — Diagnostic workup report
• "The patient with focal congenital hyperinsulinism underwent successful enucleation of the lesion." — Surgical outcome report