Table 4 Risk of germ cell malignancy according to diagnosis.
| Risk group | Disorder | Malignancy risk | Recommended action | Studies (n) | Patients (n) |
|---|---|---|---|---|---|
| High | GD* (+Y)† intra‐abdominal | 15–35 | Gonadectomy‡ | 12 | >350 |
| PAIS non‐scrotal | 50 | Gonadectomy‡ | 2 | 24 | |
| Frasier | 60 | Gonadectomy‡ | 1 | 15 | |
| Denys‐Drash (+Y) | 40 | Gonadectomy‡ | 1 | 5 | |
| Intermediate | Turner (+Y) | 12 | Gonadectomy‡ | 11 | 43 |
| 17β‐HSD | 28 | Monitor | 2 | 7 | |
| GD (+Y)‡ scrotal | Unknown | Biopsy§ and irradiation? | 0 | 0 | |
| PAIS scrotal gonad | Unknown | Biopsy§ and irradiation? | 0 | 0 | |
| Low | CAIS | 2 | Biopsy§ and ??? | 2 | 55 |
| Ovotestis DSD | 3 | Testis tissue removal? | 3 | 426 | |
| Turner (–Y) | 1 | None | 11 | 557 | |
| No (?) | 5α‐reductase | 0 | Unresolved | 1 | 3 |
| Leydig cell hypoplasia | 0 | Unresolved | 2 | ||
*Gonadal dysgenesis (including not further specified, 46XY, 46X/46XY, mixed, partial, complete).
†GBY region positive, including the TSPY gene.
‡At time of diagnosis.
§At puberty, allowing investigation of at least 30 seminiferous tubules, with diagnosis preferably based on OCT3/4 immunohistochemistry.
CAIS, complete androgen insensitivity syndrome; DSD, disorders of sex development; HSD, hydroxysteroid dehydrogenase deficiency; PAIS, partial androgen insensitivity syndrome.