The underlying genetic alterations in congenital hyperinsulinism (HI) are reflected in characteristic histopathologic changes in the pancreas of affected patients. The majority of cases with inactivating K ATP mutations can be segregated into two morphologic forms, diffuse and focal HI, with corresponding alterations in islet cell nuclear size and growth patterns, respectively. Hyperinsulinism due to other gene defects and syndromes is less common, but these patients also demonstrate abnormalities in pancreatic endocrine tissue morphology. Correlation of the histologic and genetic findings remains a mainstay of both diagnosis and patient management and has especially important clinical implications at the time of surgery.
Bhatti, T. R., & Ruchelli, E. D. (2019). Histopathology of the pancreas in congenital hyperinsulinism. In Contemporary Endocrinology (pp. 95–104). Humana Press Inc. https://doi.org/10.1007/978-3-030-02961-6_8