Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D₃Catabolism in a Patient With<i>CYP24A1</i>Mutations

Abstract

This case broadens presentations of CYP24A1 mutations and hypercalcemia in pregnancy. Furthermore, it illustrates that patients with CYP24A1 mutations can maintain normal calcium levels during the steady state but can develop hypercalcemia when challenged, such as in pregnancy when 1,25-(OH)2D levels are physiologically elevated.