https://www.selleckchem.com/pr....oducts/crenolanib-cp
Patients 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. We 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. Of the 130 included patients, 113 had hypospadias, and 17 had a normal ur