Clinical characteristics and genotype–phenotype correlation analysis in 279 patients with 5α-reductase type 2 deficiency
5α-Reductase type 2 deficiency (5α-RD2) is an autosomal recessive differences/disorders of sex development caused by SRD5A2 gene mutations, characterized by impaired testosterone-to-dihydrotestosterone conversion and highly heterogeneous clinical phenotypes. The genotype-phenotype correlation of 5α-RD2 remains...