Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1

Parathyroid-independent hypercalcaemia of pregnancy, due to biallelic loss of function of the P450 enzyme CYP24A1, the principal inactivator of 1,25(OH)2D results in hypervitaminosis D, hypercalcaemia and hypercalciuria. We report two cases of this disorder, with intractable hypercalcaemia, one occu...

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Bibliographic Details
Main Authors: Nirusha Arnold, Victor O’Toole, Tien Huynh, Howard C Smith, Catherine Luxford, Roderick Clifton-Bligh, Creswell J Eastman
Format: Article
Language:English
Published: Bioscientifica 2019-11-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM19-0114.xml