46,XY DSD

DSD, with 46,XY chromosomal complement, comprise a heterogeneous group of conditions, where either the hormones associated with virilisation (androgens) are not produced, or the target organs are unable to respond in a typical manner. Important causes to consider in these individuals are gonadal dysgenesis, variations in androgen synthesis and androgen insensitivity syndrome (AIS)—partial or complete. However, the precise nature of many 46,XY DSD cannot be diagnosed at a molecular level. Improved identification of the underlying molecular variations will hopefully allow for improved understanding of outcomes and management options.