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[Consensus on laboratory diagnosis of congenital adrenal hyperplasia due to 21 hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Sun Yu, Wu Lingqian, Ye Lei, Qiu Wenjuan, Yu Yongguo, Gu Xuefan

Abstract excerpt

21 hydroxylase deficiency (21-OHD), the most common form of congenital adrenal hyperplasia, is caused by defects in CYP21A2 gene, which encodes the cytochrome P450 oxidase (P450C21) involved in glucocorticoid and mineralocorticoid synthesis. The diagnosis of 21-OHD is based on the comprehensive evaluation of clinical manifestation, biochemical alteration and molecular genetics results. Due to the complex...

Read the complete abstract on PubMed

Topics

Child
Humans
Adrenal Hyperplasia, Congenital
Steroid 21-Hydroxylase
Consensus
China

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Clinical Laboratory Techniques

Mutation

Source

Identifiers

PMID: 37368376
DOI: 10.3760/cma.j.cn511374-20230330-00178

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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