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

Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.

Orphanet journal of rare diseases - 2 Dec 2024

Xu Yue, Liu Xuemeng, Liu Yang, Zhu Hui, Wu Jing, Han Bing, Ling Shiying, Cao Ren, Yao Haijun, Chen Yan, Liu Yu, Rao Yamin, Liu Xiaoyu, Zhao Shuangxia, Song Huaidong, Qiao Jie

Abstract excerpt

BACKGROUND: Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays pivotal roles in steroidogenesis and gonadal development. 46, XY disorder of sexual development (DSD) caused by NR5A1 mutations is a rare genetic condition. This study aimed to provide a comprehensive analysis of the clinical characteristics and molecular defects observed in 19 Chinese patients with NR5A1 variants, including assessing the...

Topics

Join the communities discussing this publication.

Adolescent
Child
Child, Preschool
China
Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

East Asian People

Steroidogenic Factor 1

Source

Open in PubMed Open full text

Identifiers

PMID: 39623453
DOI: 10.1186/s13023-024-03472-8
PMCID: PMC11610102

Genes

NR5A1
CYP17A1
SOX9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.PMID 39623453Read ↗

Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.Semantic proximity Read ↗

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different OutcomesSemantic proximity Read ↗

Identification and functional analysis of fourteen NR5A1 variants in patients with the 46 XY disorders of sex development.Semantic proximity Read ↗

A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.Semantic proximity Read ↗

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.Semantic proximity Read ↗

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis.Semantic proximity Read ↗

Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.Semantic proximity Read ↗

Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.Semantic proximity Read ↗

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 VariantSemantic proximity Read ↗

Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.Semantic proximity Read ↗

Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.Semantic proximity Read ↗

A novel c.64G>T (p.G22C) NR5A1 mutation in a Chinese adolescent with 46, XY disorders of sex development: a case reportSemantic proximity Read ↗

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