ReviewJournal of Indian Association of Pediatric Surgeons
Gene-Dosage Effect of V89L Variants in Steroid 5α-Reductase Type 2 and Increased Risk of 46, XY Disorders of Sex Development: A Systematic Review and Meta-Analysis.
Review in Journal of Indian Association of Pediatric Surgeons. 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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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.
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Abstract
Background: Disorders of sex development (DSD) and isolated hypospadias are congenital conditions characterized by atypical male genital differentiation, often linked to impaired androgen biosynthesis or signaling. The steroid 5α-reductase type 2 (SRD5A2) gene, encoding SRD5A2, is crucial for dihydrotestosterone biosynthesis, and its V89L polymorphism has been investigated as a potential risk factor for DSD. However, the results across the studies have been inconsistent. This synthesis was conducted to assess the association between the Materials and Methods: PubMed, Scopus, and Google Scholar were queried systematically for relevant studies. Meta-analysis was performed under five genetic models: allelic (V vs. L), dominant (LL + VL vs. VV), recessive (LL vs. VL + VV), codominant (LL vs. VV and VL vs. VV), and overdominant (VL vs. LL + VV). Pooled odds ratios (OR) with 95% confidence intervals (CIs) were calculated using a random effects model. Publication bias and heterogeneity were assessed through funnel plots, Begg's test, and sensitivity analyses. Results: Nine case-control studies comprising 1232 cases and 1616 controls were included. Significant associations were found in the allelic (OR = 2.05, 95% CI: 1.28-3.28, Conclusion: This meta-analysis provides strong evidence for a codominant inheritance pattern of the
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