When these methods were completed, it was found that several mutations in SRY had occurred. One female had a deletion of one nucleotide resulting in a frameshift of the DNA translation. This also suggests that this mutation is not the cause of sex reversal. Denys-Drash is another syndrome that XY females may have. The main attribute of this disorder is gradual disease of the kidney - nephropathy.
Most cases also have ambiguous external genitalia while others have normal female genitalia.
This syndrome is characterized by congenital skeletal malformations and may have one of a wide range of sexual phenotypes. These phenotypes may include normal male, female with some testicular tissue, female with dysgenetic gonads, or normal female. Chromosome abnormalities are another disorder that could result in XY females. This could be the deletion of several parts of the short arm of the Y chromosome or the deletion of parts of the X chromosome. Some of these disorders are inherited.