Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations

ConclusionsGiven 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.

Source: Pediatric Diabetes - March 1, 2018 Category: Endocrinology Authors: Joanna Yuet ‐ling Tung, Kara Boodhansingh, Charles A Stanley, Diva D De León Tags: ORIGINAL ARTICLE Source Type: research