Evidence map›Paper›PMID 42510869›Full record

ArticleGenes2026

Novel and Known

Xiaocha Xu, Xiaocheng Wu, Shuai Chen, Haixia Miao, Kexin Fang, Dingwen Wu, Yi Zhang, Xin Yang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Xiaocha XuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.
Xiaocheng WuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.
Shuai ChenDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.
Haixia MiaoDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.
Kexin FangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.
Dingwen WuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.
Yi ZhangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.
Xin YangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents'Health and Disease, Hangzhou 310051, China.ORCID 0000-0003-4267-9579

Funding

Key R&D Program 2024C03151
6 · The paper itself

Abstract

objectiveTo investigate the clinical characteristics, inheritance patterns, and genotype-phenotype correlations of DHX37 variants in 46,XY disorders of sex development (DSD).

methodsWe retrospectively reviewed 108 patients with 46,XY karyotype who underwent DSD evaluation and trio-based whole-exome sequencing (trio-WES) at our center between January 2021 and December 2025. Six probands with DHX37 variants and no concurrent pathogenic or likely pathogenic variants in other known DSD-associated genes were analyzed in detail. Clinical presentations, endocrine profiles, imaging findings, and pedigree data were collected. Variant segregation was confirmed by Sanger sequencing; variants were assessed using in silico prediction, conservation analysis, and structural modeling, and were classified according to ACMG/AMP guidelines.

resultsThe six probands exhibited marked phenotypic heterogeneity, with manifestations ranging from complete gonadal dysgenesis to mild testicular underdevelopment with gynecomastia. Six heterozygous

conclusionsThis study provides additional case evidence supporting the pathogenicity of p.Arg334Trp and expands the DHX37 variant spectrum. Computational and structural analyses suggest that p.Gly478Arg may underlie the testicular regression syndrome phenotype of the corresponding proband and that the four novel variants may be involved in testicular development. However, these genotype-phenotype correlations remain speculative; larger cohorts and in vitro functional assays are warranted to confirm these associations.

Indexed as

DEAD-box RNA HelicasesDisorder of Sex Development, 46,XYAdolescentChildChild, PreschoolExome SequencingFemaleGenetic Association StudiesGenotypeHumansInfantMaleMutation, MissensePedigreePhenotypeRetrospective StudiesDEAD-box RNA HelicasesDHX37 protein, humanRNA Helicases46,XY DSDDHX37 genedomainribosome biogenesiswhole-exome sequencing

Identifiers

PMID42510869
PMCPMC13410202

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.