Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
Arch. endocrinol. metab. (Online); 62 (5), 2018
SUMMARY Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two sibl...