Evidence map›Paper›PMID 42510837›Full record

ArticleGenes2026

Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study.

Yijun Tang, Yao Chen, Qianwen Zhang, Jie Tang, Yu Ding, Juan Li, Tingting Yu, Xiumin Wang

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.

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1 · What the graph read from it

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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.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Yijun TangDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.ORCID 0000-0002-1928-6446
Yao ChenDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Qianwen ZhangDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Jie TangDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Yu DingDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Juan LiDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Tingting YuDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.
Xiumin WangDepartment of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.

Funding

2024-National Clinical Key Specialty Construction Project 10000015Z155080000004Joint Research Project of the Pudong New Area Health Commission PW2021D-13Shanghai Clinical Medical Research Center for children's rare diseases 20MC1920400The National Key Research and Development Program of China 2022YFC2703102
6 · The paper itself

Abstract

backgroundDespite advances in genetic testing, many 46,XY Disorders of sex development (DSD) cases remain unsolved after whole-exome sequencing (WES). This study intended to explore rare variants in patients with micropenis, cryptorchidism, or hypospadias using bioinformatics analysis to identify potential pathogenic contributors and pathways underlying 46,XY DSD.

methodsA total of 35 patients with specific phenotypes (micropenis/cryptorchidism/hypospadias) and negative whole-exome sequencing results were enrolled. Bioinformatics analysis methods (SKAT-O test and GO enrichment) were applied to identify the putative loss-of-function (pLoF) variation, including nonsense, frameshift, and canonical splice-site variants, and predicted deleterious missense variants (CADD Phred > 20). Literature was reviewed to explore the correlation of detected candidate genes/pathways and 46,XY disorder of sex development.

resultsAfter variant quality filtering, we identified 307,638 pLoF variants and 127,857 predicted deleterious missense variants across all samples. In subgroup A (micropenis,

conclusionsAssessment of rare variants helps further explore the genetic contributors to 46,XY disorder of sex development and provide potential candidate genes and associated pathways.

Indexed as

Disorder of Sex Development, 46,XYComputational BiologyExome SequencingHumansMaleMutation, MissensePhenotypePilot Projects46,XY disorder of sex developmentbioinformatics analysisGO enrichmentrare variant assessmentSKAT-O

Identifiers

PMID42510837
PMCPMC13410254

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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.