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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Published in:	Frontiers in Endocrinology
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
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