ESPE Abstracts

Introduction: Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Biallelic loss-of-function variants in the CYP24A1 —which encodes the vitamin D-24-hydroxylase that regulates 1,25-(OH)2D catabolism—have been associated with IIH. Cases of IIH with CYP24A1 variants reportedly have several complications—including nephrocalcinosis, cardiovas...