Table 1.
Reported Anomalies According to Disorder Classification
| Disorder Type (number of accessible cases in Registry) | Number of Cases With Anomaly | Number of Cases With Each Type of Anomaly |
Number of Cases With Anomaly by Karyotype | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adrenal | Blood and Lymph | CNS | Craniofacial | ENT | Eyes | GI Tract | Heart | Renal | Respiratory | SGA | Short Stature | Skeletal | Skin | Undefined Syndrome | Other | |||
| Gonadal development (153) | 63 | 1 | 3 | 9 | 9 | 7 | 4 | 4 | 14 | 17 | 4 | 5 | 19 | 7 | - | 3 | 6 | 46,XY-–33 |
| 46,XX-–3 | ||||||||||||||||||
| 45,X-–5 | ||||||||||||||||||
| 45,X/46, XY-–19 | ||||||||||||||||||
| 47,XXY-–1 | ||||||||||||||||||
| Other-–2 | ||||||||||||||||||
| Androgen synthesis (100) | 18 | - | - | 1 | 1 | - | - | - | - | - | - | 1 | - | 13 | 1 | - | 3 | 46,XY-–9 |
| 46,XX-–9 | ||||||||||||||||||
| Androgen action (172) | 19 | - | - | 3 | 1 | - | 2 | 2 | 3 | 3 | 2 | 5 | 4 | 3 | 1 | 1 | 7 | 46,XY-–19 |
| Androgen excess (75) | 9 | - | - | 1 | 1 | - | - | 1 | 1 | 2 | - | - | - | 1 | - | 1 | 5 | 46,XY-–1 |
| 46,XX-–8 | ||||||||||||||||||
| Nonspecific XY DSD (90) | 44 | 1 | 1 | 8 | 4 | 5 | 3 | 6 | 11 | 7 | 3 | 17 | 4 | 5 | 3 | 1 | 10 | 46,XY-–44 |
| XX Müllerian devpt (12) | 6 | - | - | 1 | - | - | 1 | - | 1 | 6 | - | - | - | 2 | - | 1 | - | 46,XX-–6 |
| PMDS (5) | 1 | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | 1 | 46,XY-–1 |
| Leydig cell defects (17) | 1 | - | - | 1 | 1 | - | 1 | - | - | - | - | - | - | 1 | 1 | - | - | 46,XY-–1 |
| Other (25) | 7 | 1 | - | 3 | - | - | - | - | 2 | - | - | - | 1 | - | - | 1 | 1 | 46,XY-–5 |
| 46,XX-–1 | ||||||||||||||||||
| 45,X-–1 | ||||||||||||||||||
| Total (649) | 168 | 3 | 4 | 27 | 17 | 12 | 11 | 13 | 32 | 35 | 9 | 28 | 28 | 32 | 6 | 8 | 33 | |
Abbreviation: PMDS, persistent Müllerian duct syndrome. Dashes indicate no cases recorded.