Table 2.

Interpretation of serum AMH concentration in DSD

Serum AMH	Testicular tissue	Interpretation
Undetectable	Absent	46,XX CAH
		Complete gonadal dysgenesis
		PMDS due to AMH gene defect
Within female age-related reference range	Usually absent	46,XX CAH
		Dysgenetic testes or ovotestes
Below male or above female age-related reference range	Present	Dysgenic testes
		Ovotestes
Within male age-related reference range	Usually normal	Nonspecific XY DSD
		Hypogonadotrophic hypogonadism
		PMDS due to AMH-R defect
		46,XX testicular DSD
		Ovotestes
Above male age-related reference range	Present	AIS especially complete androgen insensitivity syndrome 5α-reductase deficiency
		Testosterone biosynthetic defect
		Leydig cell hypoplasia

AMH, anti-Müllerian hormone; CAH, congenital adrenal hyperplasia; DSD, Disorders of sex development.