TABLE 1.
Summary of DNA samples according to relevant phenotypes in a cohort of 122 patients with 46, XY DSD and 3 patients with 46, XX DSD, and their families.
| Cohort classification | DNA Samples Collected | WES Analysis | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Singletons | Duos | Trios | Trios and Siblings | Total | Singletons | Duos | Trios | Trios and Siblings | |
| 46, XY DSD | |||||||||
| 1. Disorders of gonadal development | 2 | 2 | 5 | 6 | 15 | 9 | 1 | 3 | 2 |
| 2. Persistent Müllerian duct syndrome | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 1 | 0 |
| 3. Other DSD | 17 | 9 | 31 | 10 | 67 | 55 | 0 | 8 | 4 |
| 4. Syndromic DSD | 5 | 8 | 18 | 8 | 39 | 27 | 1 | 9 | 2 |
| Total | 24 | 19 | 55 | 24 | 122 | 91 | 2 | 21 | 8 |
| 46, XX DSD | |||||||||
| 1. Ovotesticular DSD | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 1 | 0 |
| 2. Testicular DSD | 0 | 0 | 0 | 2 | 2 | 0 | 0 | 0 | 2 |
| Total | 0 | 0 | 0 | 3 | 3 | 0 | 0 | 1 | 2 |
| Overall Total | 125 | 91 | 2 | 22 | 10 | ||||
a
Singletons represent affected individual only. Duos represent affected individual and one parent. Trios represent affected individual and both parents. Trios and sibling(s) represent affected individual, both parents and one sibling at least.