Table 4 Number of genetically and clinically confirmed diagnoses of XY DSD and CAH
Classification of conditions | Conditions | Number of participants | Genetically verified diagnosis | Clinical diagnosisa | ||
|---|---|---|---|---|---|---|
Sex Chromosome DSD | Turner syndrome | 301 | 291 | (96.7%) | 10 | (3.3%) |
Klinefelter syndrome | 218 | 216 | (99.1%) | 2 | (0.9%) | |
45,X/46,XY | 45 | 45 | (100%) | - | (0%) | |
47,XYY | 1 | 1 | (100%) | - | (0%) | |
XY DSD | Complete XY GD | 21 | 11 | (52.4%) | 10 | (47.6%) |
Partial XY GD | 37 | 7 | (18.9%) | 30 | (81.1%) | |
XY ovotesticular DSD | 5 | 2 | (40.0%) | 3 | (60.0%) | |
CAIS | 71 | 50 | (70.4%) | 21 | (29.6%) | |
PAIS | 35 | 18 | (51.4%) | 17 | (46.6%) | |
3β-HSD | 2 | 2 | (100%) | - | (0%) | |
17β-HSD III | 11 | 11 | (100%) | - | (0%) | |
5α-RD II | 4 | 4 | (100%) | - | (0%) | |
17α-hydroxylase/17,20-lyase | 1 | - | (0%) | 1 | (100%) | |
Other androgen synthesis defects | 2 | - | (0%) | 2 | (100%) | |
XY DSD not classified | 8 | - | (0%) | 8 | (100%) | |
Severe hypospadias | 25 | - | (0%) | 25 | (100%) | |
XX DSD | XX GD | 20 | - | (0%) | 20 | (100%) |
XX ovotesticular DSD | 1 | - | (0%) | 1 | (100%) | |
CAH | 226 | 156 | (69.0%) | 70 | (31.0%) | |
XX males | 6 | 3 | (50.0%) | 3 | (50.0%) | |