Table 2.
Reported Anomalies in Monogenic Conditions
| Disorder | Total Number | Number Cases With Anomaly | CNS | Number of Cases With Each Anomaly |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Craniofacial | Eyes | GI Tract | Heart | Renal | Respiratory | SGA | Short Stature | Skeletal | Skin | Undefined Syndrome | Other | ||||
| Disorders of androgen synthesis | |||||||||||||||
| 17βhydroxysteroid dehydrogenase type 3 deficiency | 26 | 4 | 1 | - | - | - | - | - | - | - | - | 1 | - | - | 3 |
| 5α reductase type 2 deficiency | 19 | 2 | - | - | - | - | - | - | - | 1 | - | - | 1 | - | - |
| P450 oxidoreductase deficiency | 19 | 10 | - | 1 | - | - | - | - | - | - | - | 10 | - | - | - |
| Disorder of androgen action | |||||||||||||||
| Complete androgen insensitivity syndrome (AR mutation +ve) | 77 | 6 | 1 | - | - | 1 | 1 | 1 | - | - | - | - | 1 | - | 3 |
| Complete androgen insensitivity syndrome (AR mutation −ve/unknown) | 16 | 3 | - | - | - | - | - | 1 | - | - | - | 1 | - | - | 1 |
| Partial androgen insensitivity syndrome (AR mutation +ve) | 39 | 3 | - | - | - | - | - | 1 | - | - | - | 1 | - | - | 2 |
| Partial androgen insensitivity syndrome (AR mutation −ve) | 38 | 7 | 2 | 1 | 2 | 1 | 2 | - | 2 | 5 | 4 | 1 | - | 1 | 1 |
| Disorder of androgen excess | |||||||||||||||
| 21αHydroxylase deficiency | 72 | 8 | 1 | - | - | 1 | 1 | 2 | - | - | - | - | - | - | 5 |
| 11βHydroxysteroid dehydrogenase deficiency | 1 | 1 | - | 1 | - | - | - | - | - | - | - | 1 | - | 1 | - |
Abbreviation: AR, androgen receptor. Two cases reported as possible nonclassic 3β-hydroxysteroid dehydrogenase have been included in Table 1 as androgen synthesis disorders, but due to diagnostic uncertainty have not been included in the monogenic conditions in Table 2. Two cases described as “disorders of androgen excess” have the diagnosis “other” with no confirmed diagnosis and are therefore not included in Table 2. Dashes indicate no cases recorded.