Table 4: Final classification.

DSD classificationNumber of patients Total

46, XX DSD

Disorder of androgen excess, other 2
Disorder of androgen excess, 21 hydroxylase deficiency 15
Defect of mullerian development, other 4
Disorder of gonadal development, ovotesticular DSD 122

46, XY DSD

Disorder of gonadal development, other 9
Disorder of androgen action, PAIS 12
Disorder of androgen action, other 17
Male undermasculinisation of unknown aetiology 2058

Chromosomal DSD

46 XX/46 XY DSD, disorder of gonadal development,
ovotesticular DSD
1
47 XXY DSD, disorder of gonadal development, other 3
45X/46XY DSD, disorder of gonadal development, other 2
Other, disorder of gonadal development, other 2 8