Evidence map›Paper›PMID 39314038›Full record

ArticleAsian journal of andrology2025

Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.

Yu Mao, Jian-Mei Huang, Yu-Wei Chen-Zhang, He Lin, Yu-Huan Zhang, Ji-Yang Jiang, Xue-Mei Wu, Ling Liao, Yun-Man Tang, Ji-Yun Yang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Asian journal of andrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Yu MaoDepartment of Pediatric Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Jian-Mei HuangMedical Genetics Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou 450003, China.
Yu-Wei Chen-ZhangThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
He LinThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Yu-Huan ZhangThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Ji-Yang JiangThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Xue-Mei WuThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Ling LiaoThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Yun-Man TangDepartment of Pediatric Surgery, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.
Ji-Yun YangThe Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 610072, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

abstractThis study was conducted retrospectively on a cohort of 68 patients with steroid 5 α-reductase 2 (SRD5A2) deficiency and 46,XY disorders of sex development (DSD). Whole-exon sequencing revealed 28 variants of SRD5A2 , and further analysis identified seven novel mutants. The preponderance of variants was observed in exon 1 and exon 4, specifically within the nicotinamide adenine dinucleotide phosphate (NADPH)-binding region. Among the entire cohort, 53 patients underwent initial surgery at Sichuan Provincial People's Hospital (Chengdu, China). The external genitalia scores (EGS) of these participants varied from 2.0 to 11.0, with a mean of 6.8 (standard deviation [s.d.]: 2.5). Thirty patients consented to hormone testing. Their average testosterone-to-dihydrotestosterone (T/DHT) ratio was 49.3 (s.d.: 23.4). Genetic testing identified four patients with EGS scores between 6 and 9 as having this syndrome; and their T/DHT ratios were below the diagnostic threshold. Furthermore, assessments conducted using the crystal structure of human SRD5A2 have provided insights into the potential pathogenic mechanisms of these novel variants. These mechanisms include interference with NADPH binding (c.356G>C, c.365A>G, c.492C>G, and c.662T>G) and destabilization of the protein structure (c.727C>T). The c.446-1G>T and c.380delG variants were verified to result in large alterations in the transcripts. Seven novel variations were identified, and the variant database for the SRD5A2 gene was expanded. These findings contribute to the progress of diagnostic and therapeutic approaches for individuals with SRD5A2 deficiency.

Indexed as

3-Oxo-5-alpha-Steroid 4-DehydrogenaseDisorder of Sex Development, 46,XYMembrane ProteinsAdolescentChildChild, PreschoolDihydrotestosteroneFemaleHumansInfantMaleMutationRetrospective StudiesTestosterone3-Oxo-5-alpha-Steroid 4-DehydrogenaseDihydrotestosteroneMembrane ProteinsSRD5A2 protein, humanTestosterone

Identifiers

PMID39314038
PMCPMC11949451

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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.