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The genetic basis for XX truehermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear.
2
Our case demonstrates for the first time, to our knowledge, that XX truehermaphroditism can be caused by a single gene mutation.
3
A total of 30 cases of 46,XX truehermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY.