Three Sisters With Heterozygous Gene Variants of CYP24A1: Maternal Hypercalcemia, New-Onset Hypertension, and Neonatal Hypoglycemia.
Fredric HedbergChristina PiloJohan WiknerOve TörringJan CalissendorffPublished in: Journal of the Endocrine Society (2018)
Combined variants of CYP24A1 caused long-standing gestational hypercalcemia and late-onset hypertension. In neonates, elevated serum calcium and hypoglycemia can be consequences necessitating prompt measures. CYP24A1 mutations should be considered in unexplained gestational hypercalcemia. Their combined effects during pregnancy have not been observed previously.