Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.
Joanna Yuet-Ling TungKara BoodhansinghCharles A StanleyDiva D De LeónPublished in: Pediatric diabetes (2018)
Given the heterogeneous clinical phenotypes of HNF1A- and HNF4A-HI, all children with transient, diazoxide-responsive HI without clear history of perinatal stress, should be screened for HNF1A and HNF4A mutations as it predicts the clinical course and affects the subsequent management plan.