A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency.

ABSTRACT: The CYP24A1 gene encodes a mitochondrial 24-hydroxylase that inactivates 1,25(OH)₂ D. Loss-of-function mutations in CYP24A1 cause hypercalcemia, nephrolithiasis and nephrocalcinosis. We describe a woman with CYP24A1 deficiency and recurrent gestational hypercalcemia. Her first pregnancy, at age 20, resulted with the intrauterine demise of twin fetuses. Postpartum, she developed severe hypercalcemia (14 mg/dL), altered mental status, and acute pancreatitis. Her PTH was suppressed (6 pg/mL) and her 1,25(OH)₂ D was elevated (165 and 195 pg/mL on postpartum day 1 and 5, respectively). Between one and three months postpartum, her serum calcium decreased from 11.4 to 10.2 mg/dL while her 1,25(OH)₂ D level decreased from 83 to 24 pg/mL. Her 24-hour urine calcium w

SUBMITTER: Woods GN 

PROVIDER: S-EPMC5071127 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature