Table 2.
Frequencies of initial and final sex distributed according to aetiologic diagnosis of 408 consecutive cases of DSD with ambiguous genitalia followed at GIEDDS, UNICAMP, between January 1989 and December 2011.
| Etiologic diagnosis | Age ≤ 6 months | Initial sex | Final sex | ||||
|---|---|---|---|---|---|---|---|
| M | F | I | M | F | |||
| 46,XX ovarian DSD | Congenital adrenal hyperplasia | 50 | 7 | 36 | 26 | 0 | 69 |
| Isolated clitoromegaly | 14 | 0 | 10 | 9 | 0 | 19 | |
| Teratogenic | 1 | 0 | 2 | 0 | 0 | 2 | |
| Syndromic | 6 | 0 | 7 | 3 | 0 | 10 | |
| Idiopathic | 3 | 0 | 3 | 2 | 0 | 5 | |
|
| |||||||
| 46,XY testicular DSD | Hypogonadotropic hypogonadism | 4 | 12 | 0 | 0 | 12 | 0 |
| Defect in the LH/hCG receptor | 0 | 0 | 2 | 0 | 0 | 2 | |
| Defective synthesis of testosterone | 1 | 1 | 3 | 0 | 1 | 3 | |
| Androgen insensitivity | |||||||
| Total | 2 | 0 | 14 | 1 | 0 | 15 | |
| Partial | 4 | 9 | 0 | 1 | 9 | 1 | |
| 5α-Reductase type 2 deficiency | 5 | 2 | 12 | 6 | 13 | 7 | |
| Muller duct persistence | 1 | 4 | 0 | 0 | 4 | 0 | |
| Teratogenic | 3 | 4 | 0 | 1 | 5 | 0 | |
| Syndromic | 21 | 29 | 1 | 10 | 39 | 1 | |
| Idiopathic | 33 | 57 | 1 | 19 | 76 | 1 | |
|
| |||||||
| Disorders of gonadal development | Ovotesticular DSD | 8 | 13 | 4 | 5 | 10 | 12 |
| Mixed gonadal dysgenesis | 13 | 17 | 1 | 7 | 17 | 8 | |
| Partial gonadal dysgenesis | |||||||
| SRY mutation | 1 | 0 | 0 | 2 | 2 | 0 | |
| WT1 mutation | 2 | 1 | 2 | 2 | 3 | 2 | |
| NR5A1 mutation | 4 | 4 | 2 | 3 | 8 | 1 | |
| Undefined cause | 8 | 11 | 3 | 8 | 18 | 4 | |
| 46,XX testicular DSD | 1 | 2 | 0 | 1 | 3 | 0 | |
| Testicular regression syndrome | 0 | 6 | 1 | 0 | 6 | 1 | |
|
| |||||||
| Others | Epispadias | 2 | 4 | 0 | 0 | 4 | 0 |
| Penis malformation | 2 | 3 | 0 | 2 | 5 | 0 | |
| Clitoris malformation | 2 | 0 | 5 | 1 | 0 | 6 | |
| Multiple malformations | 2 | 2 | 0 | 2 | 3 | 1 | |
|
| |||||||
| Total | 193 | 189 | 108 | 111 | 238 | 170 | |