Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

What is already known on this topic?Androgen insensivity syndrome and 5α-reductase deficiency are the most common causes of 46,XY disorders of sexual development.They can present as indistinguishable phenotypes that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. What this study adds?Testosterone to dihydrotestosterone ratio may lead to diagnostic confusion.Genetic analysis for actual diagnosis seems to be essential.Four novel androgen receptor variants were identified in this Turkish pediatric population.