Table 1.
AMH and differences in sexual development
| Pathology | Karyotype | Phenotype | Serum AMH | Other markers |
|---|---|---|---|---|
| 46,XY DSD | ||||
| Complete gonadal dysgenesis (Swyer syndrome) | 46,XY | Female external genitalia and presence of Mullerian structures Streak/dysgenetic gonads |
Undetectable | Low testosterone, inhibin B and elevated LH/FSH at puberty |
| Partial gonadal dysgenesis | 46,XY | Genital ambiguity +/− presence of Mullerian structures Dysgenetic testes |
Low and reflective of testicular Sertoli cell mass | Low testosterone, inhibin B and elevated LH/FSH at puberty |
| Persistent Mullerian duct syndrome | 46,XY | Male external genitalia and Persistence of Mullerian structures Transverse testicular ectopia common |
Low (AMH gene mutations) | Normal age appropriate FSH/LH and testosterone. |
| Normal (AMH receptor mutations) male | ||||
| Testicular synthetic defects (including steroidogenic defects and Leydig cell hypoplasia) | 46,XY | Undervirilized male/ambiguous genitalia and absence of Mullerian structures with bilateral testes | Normal in childhood/high for male standard in neonates/puberty; | Low testosterone and normal to high LH based on cause |
| 5-alpha reductase deficiency | 46,XY | Undervirilized male/ambiguous genitalia and absence of Mullerian structures Bilateral testes |
Lower range of normal male | Increased testosterone: dihydrotestosterone ratio |
| Androgen insensitivity | 46,XY | Absence of Mullerian structures generally with Ambiguous genitalia (partial androgen insensitivity) Female external genitalia (complete androgen insensitivity) Bilateral testes |
High (in first year of life and during puberty with FSH stimulation); normal in childhood | Normal to high testosterone |
| Anorchia and testicular regression syndrome | 46,XY | Absence of Mullerian structures and normal male external genitalia Absent testes |
Undetectable | Low testosterone and elevated FSH/LH during puberty |
| 46,XX DSD | ||||
| 46,XX males (SRY translocation, etc) | 46,XX | Male external genitalia or ambiguous genitalia Dysgenetic testes |
Above female reference ranges in childhood and declines at puberty | Low testosterone and elevated FSH/LH at puberty |
| Congenital adrenal hyperplasia, aromatase deficiency etc | 46,XX | Virilized female or ambiguous genitalia. Bilateral ovaries and presence of Mullerian structures. | Normal female range | High testosterone and/or other androgens based on cause |
| Sex chromosome DSD | ||||
| Turner syndrome | 45,X and variable mosaic karyotype | Female external genitalia with presence of Mullerian structures Streak or dysgenetic gonads typically |
Typically, low for female reference range but may be normal and correlates with karyotype/age | Variable but typically low estradiol and elevated LH/FSH at puberty |
| Klinefelter syndrome | 47 XXY | Male external genitalia and absent Mullerian structures Dysgenetic testes |
Normal male reference range but declines after puberty to low levels | Low or low-normal testosterone and elevated FSH/LH at puberty |
| Ovotesticular DSD | 46,XX or | Ambiguous genitalia with +/− persistent unilateral/bilateral Mullerian structures | AMH above female reference standards after birth but decline in childhood | Variable but typically low testosterone/estradiol and elevated FSH/LH at puberty |
| 46,XX/46,XY typically | Ovotestes or unilateral dysgenetic testes/contralateral ovarian tissue | |||
| Mixed gonadal dysgenesis | 45,X/46XY typically | Ambiguous or male external genitalia Asymmetric gonadal dysgenesis, with dysgenetic testes/streak gonads Mullerian structures variable and often absent on testicular side |
AMH above female reference standards after birth typically, but variable and may decline in childhood | Variable, but typically low testosterone for reference male for age |
Abbreviations: AMH, anti-Mullerian hormone; FSH, follicle-stimulating hormone; LH, luteinizing hormone.