Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature

Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature

Introduction. Loss of function mutations of CYP24A1 gene, which is involved in vitamin D catabolism, cause vitamin D-mediated PTH-independent hypercalcemia. The phenotype varies from life-threatening forms in the infancy to milder forms in the adulthood. Case Presentation. We report a case of a 17-y...

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Main Authors: Daniele Cappellani, Alessandro Brancatella, Martin Kaufmann, Angelo Minucci, Edda Vignali, Domenico Canale, Elisa De Paolis, Ettore Capoluongo, Filomena Cetani, Glenville Jones, Claudio Marcocci
Format: Article
Language:English
Published: Wiley 2019-01-01
Series:Case Reports in Endocrinology
Online Access:http://dx.doi.org/10.1155/2019/4982621
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