biostudies-literatureSeo JHanim Precision Medicine Center of Yonsei University Health SystemHanim Precision Medicine Center of the Yonsei University Health System3297https://www.ebi.ac.uk/biostudies/studies/S-EPMC9966410biostudies-literatureUnknown24(4)The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the <i>SRD5A2</i> gene mutation varies, and although there have been many attempts, the genotype-phenotype correlation still has not yet been adequately evaluated. Recently, the crystal structure of the 5α-reductase type 2 isozyme (SRD5A2) has been determined. Therefore, the present study retrospectively evaluated the genotype-phenotype correlation from a structural perspective in 19 Korean patients with 5αRD2. Additionally, variants were classified according to structural categories, and phenotypic severity was compared with previously published data. The p.R227Q variant, which belongs to the NADPH-binding residue mutation category, exhibited a more masculine phenotype (higher external masculinization score) than other variantInternational journal of molecular sciencesThe Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.PMC99664106-2021-0213Shin SKim SWLee YSSeo JLee MKim HSChoi JRHan SKwon ASong KSuh JChae HWLee STKim SJfalseThe Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the <i>SRD5A2</i> gene mutation varies, and although there have been many attempts, the genotype-phenotype correlation still has not yet been adequately evaluated. Recently, the crystal structure of the 5α-reductase type 2 isozyme (SRD5A2) has been determined. Therefore, the present study retrospectively evaluated the genotype-phenotype correlation from a structural perspective in 19 Korean patients with 5αRD2. Additionally, variants were classified according to structural categories, and phenotypic severity was compared with previously published data. The p.R227Q variant, which belongs to the NADPH-binding residue mutation category, exhibited a more masculine phenotype (higher external masculinization score) than other variant2023-01-01T00:00:00Z2023 Feb2026-05-16T03:14:27.614Z2025-02-18T23:44:40.45ZS-EPMC99664103683471410.3390/ijms24043297