The undetectable levels of serum AMH and testosterone levels indicate a lack of functional testicular tissue, for example, that in patients with anorchia or severe Klinefelter syndrome suffering from impaired spermatogenesis.
In boys with nonpalpable gonads, AMH determination is useful to distinguish between cryptorchidism and anorchism, as well as differentiating the dysgenetic causes of disorders of sexual development from those due to defective androgen synthesis or action.
Endocrine work-up revealed low testosterone levels, which did not respond to human chorionic gonadotropin stimulation, extremely elevated luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels, and undetectable anti-Müllerian hormone, all of which are suggestive of testicular failure or anorchia.
Undetectable plasma concentrations of AMH and inhibin B and an elevated plasma FSH, together with 46,XY complement are sufficient for diagnosis of anorchia.The hCG test is unnecessary.
Serum MIS levels correlated with the presence of testicular tissue in two patients with suspected anorchia, five patients with male pseudohermaphroditism, and eight other intersex patients with undescended testes, dysgenetic gonads, or ovotestes.