Table 2.
Interpretation of serum AMH concentration in DSD
| Serum AMH | Testicular tissue | Interpretation |
|---|---|---|
| Undetectable or very low | Absent | 46,XX CAH |
| Complete gonadal dysgenesis | ||
| PMDS due to AMH gene defect | ||
| Congenital anorchia | ||
| Within female age‐related reference range | Usually absent | 46,XX CAH |
| Complete gonadal dysgenesis | ||
| Dysgenetic testes or ovotestes | ||
| Below male or above female age‐related reference range | Present | Dysgenetic testes |
| Ovotestes | ||
| Within male age‐related reference range | Usually normal | Non‐specific XY,DSD Hypogonadotrophic hypogonadism |
| PMDS due to AMH‐R defect | ||
| 46,XX testicular DSD | ||
| Ovotestes | ||
| Above male age‐related reference range | Present | AIS esp. CAIS |
| 5α‐reductase deficiency | ||
| Testosterone biosynthetic defect | ||
| Leydig cell hypoplasia |