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

Abstract

Androgen insensivity syndrome and 5-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.