Monogenic Familial Neonatal Diabetes in Preterm Infant With ABCC8 Gene Mutation: Transition to Oral Sulfonylurea Therapy.

Abstract

Sulfonylurea treatment has been shown to improve both glycemic control and neurodevelopmental outcomes in neonatal diabetes (NDM) secondary to ABCC8 gene mutations. Given these mutations are among the most common, an empiric sulfonylurea trial may be reasonable. We report a case of NDM secondary to an ABCC8 mutation in an infant born at 34 6/7 weeks gestational age (GA) who was transitioned to oral sulfonylurea therapy at 38 2/7 weeks corrected GA. Empiric oral sulfonylurea therapy was initiated while genetic testing was pending, which later confirmed the diagnosis of monogenic NDM. Empiric transition to sulfonylurea therapy in a preterm infant with monogenic NDM is described for the first time in the literature. Furthermore, this report offers possible guidance relating to initial sulfonylurea dose at initiation and the utility of additional genetic testing in family members.