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.
CITATION STYLE
O’Connell, M. A., Bouty, A., & Grover, S. R. (2020). 46, XY DSD. In Disorders|Differences of Sex Development: An Integrated Approach to Management (pp. 77–102). Springer Singapore. https://doi.org/10.1007/978-981-13-7864-5_7
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