ArticleFrontiers in endocrinology2026
Clinical characteristics and genotype-phenotype correlation analysis in 279 patients with 5α-reductase type 2 deficiency.
Article in Frontiers in endocrinology, 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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Abstract
Objective: 5α-Reductase type 2 deficiency (5α-RD2) is an autosomal recessive differences/disorders of sex development caused by Methods: We systematically searched PubMed, Embase, CNKI, Wanfang, and Chinese Medical Journals databases from inception to December 2025. A total of 279 genetically confirmed patients with 5α-RD2 from 36 countries (64.77% from Asia) were included. Demographic, clinical, biochemical, genetic, and prognostic data were extracted and analyzed using SPSS 25.0. Results: Seventy-eight pathogenic Conclusion: We verified that the genotype-phenotype correspondence is non-linear and multifactorial, jointly modulated by mutation subtype, residual enzyme activity, endocrine axis status, geographical disparities, consanguinity, and regional medical resource availability. These findings provide more reliable evidence for clinical diagnosis, treatment, and prognosis assessment.
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