Table 2.
Differential diagnosis and distinguishing features
| Infant | |||||
|---|---|---|---|---|---|
| 46,XX/45,X | 17OHD | Turner | PORD | ||
| Turner Stigmata | Absent | Present | Absent | ||
| Skeletal Anomolies | Absent | Absent | ±Present | ||
| Genitalia | Prader 1 | Prader 1 | Prader 1–4 | ||
| Gonadotropins | High | High | High | ||
| 17OHP | Low/Nl | Nl | High | ||
| 46,XY | 17OHD | AIS/5αRD | PORD | 17βHSD3D | Gon Dys |
| Skeletal Anomolies | Absent | Absent | ±Present | Absent | Absent |
| Genitalia | Prader 1–3 | Prader 1–2 | Prader 2–4 | Prader 1–3 | Prader 1–2 |
| 17OHP | Low/Nl | Nl | High | Nl | Nl |
| Testosterone | Low | Nl Male | Low | Low | Low |
| Androstenedione | Low | Nl Male | Low | High | Low |
| Cortisol | Low | Nl | Low | Nl | Nl |
| DOC | High | Nl | Nl | Nl | Nl |
| Corticosterone | High | Nl | Nl or High | Nl | Nl |
| Adolescent & Adult | |||||
| 46,XX/45,X | 17OHD | Turner/GonDys | PORD | ||
| Blood Pressure | High | Nl or High | Nl | ||
| Stature | Nl or Tall | Short or Nl | Nl | ||
| Estradiol | Low | Low | Low | ||
| Cortisol | Low | Nl | Low | ||
| DOC | High | Nl | Nl | ||
| 46,XY | 17OHD | AIS | 17βHSD3D/5αRD | Gon Dys | |
| Blood Pressure | High | Nl | Nl | Nl | |
| Pubertal Virilization | Absent | Absent/Partial | Present | Absent | |
| Testosterone | Low | Nl Male | Low/Low Nl | Low | |
| Cortisol | Low | Nl | Nl | Nl | |
| DOC | High | Nl | Nl | Nl | |