biostudies-literatureUnknown9(6)Griffin TP<h4>Introduction</h4>Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants.<h4>Methods</h4>The proband and seven family members underwent detailed clinical and biochemical evaluation. Laboratory measurements included serum calcium, intact parathyroid hormone (iPTH), vitamin D metabolites and urine calcium and creatinine.<h4>Results</h4>The proband presented during the second trimester of a planned pregnancy with flu-like Endocrine connections530-541https://www.ebi.ac.uk/biostudies/studies/S-EPMC7354719biostudies-literatureBiallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.PMC7354719Sayer JAIslam MNGillan JEAlkanderi SO'Keeffe DTBogdanet DGriffin TPMorrison JJBell MO'Shea PMJoyce CMBlake LMO'Brien TDennedy MCfalseBiallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.<h4>Introduction</h4>Inactivating mutations in CYP24A1, encoding vitamin D-24-hydroxylase, can lead to an accumulation of active vitamin D metabolites and consequent hypercalcaemia. Patient (infantile and adult) presentation is varied and includes mild-severe hypercalcaemia, hypercalciuria, nephrocalcinosis and nephrolithiasis. This study aimed to characterize the clinical and biochemical phenotypes of a family with two CYP24A1 missense variants.<h4>Methods</h4>The proband and seven family members underwent detailed clinical and biochemical evaluation. Laboratory measurements included serum calcium, intact parathyroid hormone (iPTH), vitamin D metabolites and urine calcium and creatinine.<h4>Results</h4>The proband presented during the second trimester of a planned pregnancy with flu-like 2020-01-01T00:00:00Z2020 Jun2025-04-19T11:40:04.976Z2025-04-19T11:40:04.976ZS-EPMC73547193237512310.1530/EC-20-0150