ESPE Abstracts

Introduction: Congenital hyperinsulinism (CHI) is a rare condition often caused by variants in genes that regulate insulin production. Among the 30 genes identified, CACNA1D, which encodes L-type calcium channels in various cells, is a rare cause. Variants in CACNA1D lead to a multisystem disorder characterized by developmental delay, intellectual disability, autism, hypotonia, seizures, primary aldosteronism, CHI, hearing loss, visual issues...