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Article

CYP17A1 Pathogenic Variants in 26 Chinese Patients With 17α-Hydroxylase Deficiency by Targeted Long-Read Sequencing.

The Journal of clinical endocrinology and metabolism - 18 Dec 2024

Cao Yaqing, Zhao Zhiyuan, Lu Lin, Zhang Xiaoxia, Zhang Wei, Sun Bang, Tong Anli, Chen Shi, Wang Xi, Mao Jiangfeng, Wu Xueyan, Nie Min

Abstract excerpt

BACKGROUND: 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare subtype of congenital adrenal hyperplasia caused by homozygous or compound heterozygous pathogenic variants in the CYP17A1 gene. PURPOSE: This study aimed to identify and characterize pathogenic variants in individuals with 17-OHD and to classify and validate the pathogenicity of novel variants. METHODS: Variants were identified via targeted...

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Identifiers

PMID: 38934795
DOI: 10.1210/clinem/dgae414

Genes

CYP17A1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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