Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review

Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review

Introduction24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying...

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Bibliographic Details
Main Authors: Dorota Leszczyńska, Alicja Szatko, Julia Latocha, Magdalena Kochman, Maria Duchnowska, Anna Wójcicka, Waldemar Misiorowski, Wojciech Zgliczyníski, Piotr Glinicki
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Endocrinology
Subjects:
hypercalcaemia
CYP24A1 gene
vitamin D
primary hyperparathyroidism
25(OH)D3
1,25(OH)2D3
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1355916/full

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https://www.frontiersin.org/articles/10.3389/fendo.2024.1355916/full

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