ArticleMolecular genetics & genomic medicine2020
Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 25 citations in OpenAlex.
- Steroid 5α-reductases in the brain: From neurosteroidogenesis to therapeutic implications.Frontiers in neuroendocrinology · 2026Review
- Clinical characterization and analysis of the SRD5A2 gene in 16 Chinese patients with 5α-reductase type 2 deficiency: a single-center retrospective study.BMC pediatrics · 2026Article
- A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China.Biology of sex differences · 2026Article
- Clinical characteristics and genotype-phenotype correlation analysis in 279 patients with 5α-reductase type 2 deficiency.Frontiers in endocrinology · 2026Article
- Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.Human mutation · 2026Article
- The diagnostic value of stimulated androgen ratios in 5-alpha reductase type 2 (SRD5A2) deficiency: a case series and review of the literature.Journal of pediatric endocrinology & metabolism : JPEM · 2025Review
- Article
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.Asian journal of andrology · 2025Article
- The role of systemic immune-inflammation index in differentiation of juvenile idiopathic arthritis from reactive arthritis among Chinese children.Frontiers in medicine · 2025Article
- Identification of a Rare Variant in theCase reports in genetics · 2025Article
- Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.Biology of sex differences · 2024Article
- Genotype-phenotype correlations, surgical selections, and postoperative complications of 5α-reductase 2 deficiency in 69 children with hypospadias.Asian journal of andrology · 2023Article
- Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.Endocrine connections · 2023Article
- Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency.Journal of personalized medicine · 2023Article
- The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.International journal of molecular sciences · 2023Article
- Possible testosterone redundancy for 5α-dihydrotestosterone in the masculinization of mouse external genitalia.Experimental animals · 2022Article
- Genotype-Phenotype Correlation Analysis and Identification of a NovelInternational journal of general medicine · 2022Article
- An Extremely RareCase reports in endocrinology · 2022Article
- Exploring the efficacy of testosterone undecanoate in male children with 5α-reductase deficiency.Pediatric investigation · 2021Article
- Molecular Characterization of Two Known SRD5A2 Gene Variants in Mexican Patients With Disorder of Sexual Development.Frontiers in genetics · 2021Article
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8 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with steroid 5α-reductase 2 deficiency (5α-RD) caused by SRD5A2 (OMIM #607306) variants present variable genotypes and phenotypes. The genotype-phenotype correlations remain unclear.
methodsWe investigated genotype-phenotype correlations of SRD5A2 variants in a large Chinese single-center cohort. Phenotypes were categorized using the external masculinization score (EMS), urethral meatus and gonad position, and penile length-standard deviation score.
resultsOf the 130 included patients, 113 had hypospadias, and 17 had a normal urethral meatus position. Testosterone/dihydrotestosterone (T/DHT) values were not significantly associated with phenotypic severity (p = 0.539-0.989). Of the 31 SRD5A2 variants, including 10 novel variants, p.R227Q was the most prevalent (39.62%), followed by p.Q6* (16.92%), p.R246Q (13.46%), and p.G203S (10.38%). Compared to biallelic missense mutations, biallelic nonsense mutations were associated with a lower EMS and urethral meatus score (p = 0.009 and p = 0.024, respectively). Patients homozygous for p.R227Q exhibited mild and variable phenotypes, while those homozygous for p.Q6*, p.R246Q, or p.G203S showed consistently severe phenotypes. The phenotypes were variable and milder in patients with compound heterozygosity for p.R227Q and these mutations.
conclusionT/DHT does not predict phenotype severity. The most prevalent SRD5A2 variant in Han Chinese is p.R227Q, which is associated with milder phenotypes and greater phenotypic variability. SRD5A2 variants may significantly influence phenotypic variation.
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