Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 13 Aug 2026

Cao Yaqing, Lu Lin, Li Ming, Tong Anli, Chen Shi, Zhang Xiaoxia, Zhang Wei, Guo Baocheng, Guo Chenjie, Wang Chuang, Wang Xi, Mao Jiangfeng, Wu Xueyan, Nie Min

Abstract excerpt

BACKGROUND: Complete 17α-hydroxylase/17,20-lyase deficiency (17-OHD) is a rare autosomal recessive form of congenital adrenal hyperplasia caused by CYP17A1 variants. Large-scale studies integrating clinical, genetic, and functional data remain limited. METHODS: We recruited 113 genetically confirmed 17-OHD patients from 107 unrelated families. Comprehensive clinical manifestations, hormonal, and imaging...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to East Asian People

Share to Pedigree

Share to Steroid 17-alpha-Hydroxylase

Share to Young Adult

Source

Identifiers

PMID: 41860303
DOI: 10.1210/clinem/dgag049

Genes

CYP17A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.PMID 41860303Read ↗

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

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.Semantic proximity Read ↗

Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion.Semantic proximity Read ↗

New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.Semantic proximity Read ↗

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiencySemantic proximity Read ↗

Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.Semantic proximity Read ↗

Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.Semantic proximity Read ↗

[A compound heterozygous mutation in CYP17A1 gene in a female subject with partial 17α-hydroxylase/17, 20 lyase deficiency].Semantic proximity Read ↗

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.