Table 2 Serum AMH levels according to clinical presentation
Serum AMH | ||||
|---|---|---|---|---|
Clinical sign | Undetectable | Low | Normal | High |
Cryptorchidism | Anorchidism (Testicular regression, bilateral gonadectomy) PMDS - AMH mutation | Primary hypogonadism (testicular dysgenesis syndrome) Central hypogonadism | Rules out testicular dysgenesis PMDS - AMHR mutation | -- |
Micropenis | Fetal testicular regression | Primary hypogonadism Central hypogonadism | Malformative micropenis | -- |
Absence of puberty | Testicular regression Bilateral gonadectomy | Primary hypogonadism Central hypogonadism | Constitutional delay of puberty | -- |
Precocious pubertal signs | -- | Central Precocious Puberty Testotoxicosis Leydig cell tumor | Congenital adrenal hyperplasia Adrenal androgen-secreting tumors Exogenous androgen exposure | -- |
Prepubertal macro-orchidism | -- | -- | -- | McCune-Albright syndrome Sex-cord stromal tumors |
DSD | 46,XY Complete gonadal dysgenesis | 46,XY Partial gonadal dysgenesis Sex-chromosome gonadal dysgenesis Ovotesticular DSD | Androgen synthesis defects Androgen insensitivity 46,XY Malformative DSD 46,XX male (Testicular DSD) | Androgen synthesis defects Androgen insensitivity |