Table 3.
Frequencies of the different disorders of sex development (DSD) diagnoses by age group, in months, of the 709 cases.
| Final diagnosis | 0–1 ma | 2–12 ma | 13–119 ma | 120–239 ma | >240 ma | Totalb |
|---|---|---|---|---|---|---|
| Sexual chromosome abnormalities | ||||||
| Mixed gonadal dysgenesis | 14 (34.1%) | 10 (24.4%) | 9 (22%) | 8 (19.5%) | 0 | 41 (5.8%) |
| 45,X/46,XY ovotesticular DSD or non-Turner's syndrome variants | 2 (22.3%) | 1 (11.1%) | 1 (11.1%) | 5 (55.5%) | 0 | 9 (1.2%) |
| Other sexual chromosome abnormalities | 0 | 3 (21.4%) | 2 (14.3%) | 4 (28.6%) | 5 (35.7%) | 14 (2.0%) |
| 46,XY DSD | ||||||
| XY partial gonadal dysgenesis | 13 (20.3%) | 19 (29.7%) | 15 (23.4%) | 12 (18.8%) | 5 (7.8%) | 64 (9.0%) |
| XY ovotesticular DSD | 0 | 1 (20%) | 4 (80%) | 0 | 0 | 5 (0.7%) |
| Testicular regression syndrome | 0 | 2 (12.5%) | 8 (50%) | 6 (37.5%) | 0 | 16 (2.3%) |
| Testosterone synthesis defect | 3 (25%) | 3 (25%) | 2 (16.7%) | 4 (33.3%) | 0 | 12 (1.7%) |
| Hypogonadotropic hypogonadism | 6 (5.7%) | 22 (20.8%) | 27 (25.5%) | 34 (32.1%) | 17 (16%) | 106 (15%) |
| Leydig cell hypoplasia | 0 | 0 | 2 (100%) | 0 | 0 | 2 (0.3%) |
| Total androgen insensitivity | 1 (3.6%) | 2 (7.1%) | 11 (39.3%) | 7 (25%) | 7 (25%) | 28 (3.9%) |
| Partial androgen insensitivity | 1 (9.1%) | 4 (36.4%) | 4 (36.4%) | 1 (9.1%) | 1 (9.1%) | 11 (1.6%) |
| Mild androgen insensitivity | 0 | 0 | 0 | 0 | 1 (100%) | 1 (0.1%) |
| 5-Alpha reductase deficiency | 5 (21.7%) | 3 (13%) | 3 (13%) | 9 (39.1%) | 3 (13%) | 23 (3.2%) |
| Persistence of Mullerian ducts | 0 | 1 (20%) | 3 (60%) | 0 | 1 (20%) | 5 (0.7%) |
| Idiopathic 46,XY DSD | 25 (20.8%) | 37 (30.8%) | 46 (38.3%) | 11 (9.2%) | 1 (0.8%) | 120 (17%) |
| Syndromic 46,XY DSD | 20 (23%) | 22 (25.3%) | 34 (39.1%) | 9 (10.3%) | 2 (2.3%) | 87 (12.3%) |
| Teratogenic 46,XYDSD | 1 (16.7%) | 2 (33.3%) | 3 (50%) | 0 | 0 | 6 (0.8%) |
| 46,XX DSD | ||||||
| XX ovotesticular DSD | 2 (23%) | 3 (33%) | 4 (44%) | 0 | 0 | 9 (1.2%) |
| 46,XX testicular DSD | 1 (14.3%) | 0 | 1 (14.3%) | 2 (28.6%) | 3 (42.9%) | 7 (1%) |
| Congenital adrenal hyperplasia | 31 (50.8%) | 12 (19.7%) | 12 (19.7%) | 4 (6.6%) | 2 (3.3%) | 61 (8.6%) |
| P450-oxidoreductase (POR) or aromatase deficiency | 0 | 1 (100%) | 0 | 0 | 0 | 1 (0.1%) |
| 46,XX DDS of maternal cause | 1 (50%) | 1 (50%) | 0 | 0 | 0 | 2 (0.3%) |
| Idiopathic 46,XX DSD | 13 (40.6%) | 6 (18.8%) | 9 (28.1%) | 4 (12.5%) | 0 | 32 (4.5%) |
| Syndromic 46,XX DSD | 5 (11.6%) | 7 (16.3%) | 11 (25.6%) | 14 (32.6%) | 6 (14%) | 43 (6.1%) |
| Teratogenic 46,XX DSD | 0 | 1 (25%) | 2 (50%) | 1 (25%) | 0 | 4 (0.6%) |
| Total | 144 (20.4%) | 163 (23%) | 213 (30%) | 135 (19%) | 54 (7.6%) | 709 (100%) |
a
Percentage in relation to the total for each diagnosis.
b
Percentage in relation to the total number of patients (709).