Endocrine Abstracts

Background: CYP24A1 gene encodes the enzyme vitamin D 24-hydroxylase, which converts active vitamin D to inactive metabolites. More than 20 currently described, usually biallelic pathogenic variants of this gene are responsible for idiopathic infantile hypercalcemia manifested typically in childhood (often in newborns) with hypercalcemia, hypercalciuria and nephrocalcinosis. However, a few patients (mostly with monoallelic heterozygous pathogenic variant) can develop mild symp...