A SOX9 duplication and familial 46,XX developmental testicular disorder.

@article{Cox2011ASD,
  title={A SOX9 duplication and familial 46,XX developmental testicular disorder.},
  author={James J. Cox and Lionel R Willatt and Tessa Homfray and Christopher Geoffrey Woods},
  journal={The New England journal of medicine},
  year={2011},
  volume={364 1},
  pages={
          91-3
        }
}
To the Editor: Female-to-male sex reversal in humans is rare, and when it is familial, it is extremely rare. We describe a family with a 46,XX testicular disorder of sex development in which three adult males (two brothers and a paternal uncle) were determined to be female according to karyotype (46,XX) and were negative for the SRY gene (Figure 1). The secondary sexual characteristics, behavior, growth and development, and skeletal development in these men were all normal male. Their general… 
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Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed.

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Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

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