Abstract
46,XY DSD comprise a very heterogeneous group of conditions where the male hormones are not produced in sufficient quantities or the target organs are unable to respond. The most commonly diagnosed conditions are androgen insensitivity syndrome (AIS) – partial or complete, and defects in androgen synthesis. Many 46,XY DSD, however, are not yet able to be diagnosed at a molecular level, and much current research is directed to trying to resolve this dilemma, to improve treatment options.
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Hewitt, J.K., Warne, G.L. (2012). 46,XY DSD. In: Hutson, J., Warne, G., Grover, S. (eds) Disorders of Sex Development. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-22964-0_7
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