Table 2.
Patient diagnoses.
| Sex Chromosome DSD | |||
|---|---|---|---|
| Reared as a Boy (n=3) | n | Reared as a Girl (n=5) | n |
| Klinefelter syndrome | 1 | Turner syndrome and variants | 4 |
| 47,XYY with proximal hypospadias, penoscrotal transposition, and undescended testes | 1 | Mixed gonadal dysgenesis | 1 |
| Mixed gonadal dysgenesis | 1 | ||
|
| |||
| 46,XY DSD | |||
| Reared as a Boy (n=18) | n | Reared as a Girl (n=20) | n |
|
| |||
| Pure gonadal dysgenesis | 1 | 46,XY gonadal dysgenesis - MAP3K1 | 7 |
| Partial androgen insensitivity syndrome | 3 | Complete androgen insensitivity syndrome | 4 |
| 17β-hydroxysteroid dehydrogenase deficiency | 1 | 17β-hydroxysteroid dehydrogenase deficiency | 2 |
| 5α-reductase type 2 deficiency | 1 | 5α-reductase type 2 deficiency | 1 |
| Cloacal/Bladder exstrophy | 2 | 17α-hydroxylase/17,20-lyase deficiency | 1 |
| 22q 11.2 deletion syndrome | 1 | WAGR 11p13 deletion syndrome | 1 |
| Persistent Müllerian duct syndrome | 1 | Atypical genitalia with unknown genetic etiology | 4 |
| Atypical genitalia of unknown genetic etiology | 8 | ||
|
| |||
| 46,XX DSD | |||
| Reared as a Boy (n=1) | n | Reared as a Girl (n=17) | n |
|
| |||
| 46,XX SRY+ | 1 | CAH (11β-hydroxylase deficiency) | 1 |
| CAH (21-hydroxylase deficiency) | 3 | ||
| CAH, nos | 8 | ||
| Cloacal anomalies | 2 | ||
| VACTERL association | 2 | ||
| Atypical genitalia of unknown genetic etiology | 1 | ||
|
| |||
| Total Reared as Boys | 22 | Total Reared as Girls | 42 |