Potential Pathogenetic Role of a Novel Abcc8 Missense Variant on Both Transient Neonatal Diabetes Mellitus and Fetal Growth Restriction: A Case Report

Abstract

We report a novel missense ABCC8 variant associated with a clinical phenotype compatible with transient neonatal diabetes mellitus in a fetal growth restricted preterm infant. The variant would appear to be associated with a mild and transient clinical course, since the hyperglycemia resolved shortly after the first month of life, needed transient insulin therapy, and did not recur later in life. The novel genetic variant we found could be the main cause of both transient neonatal diabetes mellitus and fetal growth restriction.