46, XY DSD

Abstract

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.