ArticleJournal of endocrinological investigation2023
Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.
Article in Journal of endocrinological investigation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Spectrum and genotype-phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis.Endocrine connections · 2026Article
- Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.Journal of endocrinological investigation · 2025Article
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.Asian journal of andrology · 2025Article
- Sertoli cells as a hub in testicular development and male reproductive.Frontiers in cell and developmental biology · 2025Review
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.Frontiers in genetics · 2024Review
- Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.Biomolecules · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
purpose46,XY disorders of sex development (DSD) is the most complicated and common type of DSD. To date, more than 30 genes have been identified associated with 46,XY DSD. However, the mutation spectrum of 46,XY DSD is incomplete owing to the high genetic and clinical heterogeneity. This study aims to provide clinical and mutational characteristics of 18 Chinese patients with 46,XY DSD.
methodsA total of 20 unrelated individuals with 46,XY DSD were recruited. Whole-exome sequencing (WES) or custom-panel sequencing combined Sanger sequencing were performed to detect the pathogenic mutations. The pathogenicity of the variant was assessed according to the American College of Medical Genetics and Genomics (ACMG) guidance and technical standards recommended by the ACMG and the Clinical Genome Resource (ClinGen).
resultsSix patients harbored NR5A1 mutations; two patients harbored NR0B1 mutations; six patients harbored SRD5A2 mutations; six patients harbored AR mutations. Six novel genetic variants were identified involved in three genes (NR5A1, NR0B1, and AR).
conclusionWe determined the genetic etiology for all enrolled patients. Our study expanded the mutation spectrum of 46,XY DSD and provided diagnostic evidence for patients with the same mutation in the future.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.