Case report: 17α− hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients

Case report: 17α− hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients

17α-Hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. It is characterized by impaired adrenal and gonad steroid biosynthesis. Affected patients present with hypertension, hypokalemia, and disorders of sexual development. Here, we...

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Bibliographic Details
Main Authors: Jinying Li, Qiang Zhang, Jing Chen, Xingjiao Fu, Jingpin Yang, Lijun Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Pediatrics
Subjects:
17α-hydroxylase deficiency
novel variant
twin
children
hypertension
hypokalemia
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.935191/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.935191/full

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