Table 4.
Germ cells by diagnosis
| DSD Diagnosis | Median Mos Age at Gonadectomy/Biopsy (range) | No. GCs /Total No. | GC Type | Mean ± SD No. GCs/mm2 (range) |
|---|---|---|---|---|
| Complete androgen insensitivity syndrome | 171 (1–205) | 6/6 | Testis | 62 ± 111 (2–286) |
| Complete gonadal dysgenesis | 209 | 0/1 | Not applicable | |
| Denys-Drash syndrome | 15 | 1/1 | Testis | 31 |
| SRY mutation | 15 | 1/1 | Testis | 280 |
| Mixed gonadal dysgenesis | 15 (3–191) | 6/6 | Ovary, testis | 19 ± 14 (10–35), 22 ± 21 (2–43) |
| Ovotesticular DSD | 4 (3–5) | 2/2 | Ovary, testis | 190 ± 57 (21–230), 62 ± 54 (23–100) |
| Partial gonadal dysgenesis | 120 (39–200) | 0/2 | Not applicable | |
| Persistent müllerian duct syndrome | 63 (10–79) | 1/2 | Testis | 38 |
| StAR protein deficiency | 12 | 1/1 | Testis | 38 |
| XO/XY Turner syndrome | 145 (39–216) | 1/9 | Ovary | 1 |
| Urogenital sinus/cloacal abnormality | 0 | 1/1 | Ovary | 190 |
| DSD not otherwise specified* | 11 (0–215) | 10/12 | Ovary, testis | 156 ± 152 (2.6–420), 47 ± 51 (5–142) |
*
In 12 patients exact DSD diagnosis was unclear from available records so they were classified with DSD not otherwise specified.