5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review

The review examined the correlation between genotype and phenotype in 5-α-Reductase type 2 deficiency, an autosomal recessive disorder affecting male sexual development. Despite analyzing various mutations in the SRD5A2 gene and using the external masculinization score (EMS) to classify phenotypes, the study found no consistent genotype-phenotype correlation. The severity of the phenotype was influenced by the mutation's location in the protein, but even patients with the same homozygous mutation exhibited variable phenotypes. This variability suggested the involvement of additional genetic factors, complicating accurate diagnosis and medical management.