New Insights into 5α-Reductase Type 2 Deficiency Based on a Multi-Centre Study

Apr 19, 2026

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Multi-centre analysis of 190 Chinese patients with 5α-reductase type 2 (SRD5A2) deficiency quantified regional variant distribution and genotype–phenotype relationships. Hypospadias was common (66.32%). Forty-two SRD5A2 variants were identified, including 13 novel ones; compound heterozygous and homozygous genotypes accounted for 61.58% and 38.42%, respectively, with exons 1, 4, and 5 most affected. The c.680G>A variant dominated overall and showed distinct north–south and anatomical hypospadias-specific prevalence patterns.

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New Insights into 5α-Reductase Type 2 Deficiency Based on a Multi-Centre Study

Apr 19, 2026

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