Table 2.
Pubertal development of 14 Prader‐Willi syndrome males older than 15 y
| Case (case in Table 3) | Genetic defect | Testis position | Age at puberty onset | Pubertal development | Pubertal stage (>18 y) | |
|---|---|---|---|---|---|---|
| Rt | Lt | |||||
| 1 (case 3) | DEL | Extra‐canalicular | Extra‐canalicular | 10 | Spontaneously | 3 |
| 2 (case 4) | DEL | Extra‐canalicular | Scrotum | 11 | Spontaneously | 5 |
| 3 (case 5) | DEL | Extra‐canalicular | Extra‐canalicular | 11 | Spontaneously | 2 |
| 4 | DEL | Extra‐canalicular | Scrotum | 10 | Spontaneously | 2 |
| 5 | Not known | Scrotum | Extra‐canalicular | 13 | Spontaneously | 3 |
| 6 | Not known | Extra‐canalicular | Extra‐canalicular | 12 | Spontaneously | 4 |
| 7 | DEL | Extra‐canalicular | Extra‐canalicular | 10 | Spontaneously | 2 |
| 8 | ICD | Extra‐canalicular | Extra‐canalicular | 12 | Spontaneously | 2 |
| 9 | DEL | Extra‐canalicular | Extra‐canalicular | 12 | Spontaneously | 2 |
| 10 | Not known | Extra‐canalicular | Extra‐canalicular | 12 | Spontaneously | 3 |
| 11 | Not known | Scrotum | Scrotum | 13 | Spontaneously | 3 |
| 12 | DEL | Extra‐canalicular | Extra‐canalicular | 11 | Spontaneously | Not reached |
| 13 | UPD | Intra‐abdominal | Extra‐canalicular | 10 | Spontaneously | Not reached |
| 14 (case 2) | Not known | Extra‐canalicular | Scrotum | 14 | hCG treatment | Not reached |
DEL, deletion; ICD, imprinting centre defect; Lt, left; Rt, right; UPD, uniparental disomy.