Interpretation

Menopausal women or women with premature ovarian failure of any cause, including after cancer chemotherapy, have very low anti-Mullerian hormone (AMH) levels.

While the optimal AMH concentrations for predicting response to in vitro fertilization are still being established, it is accepted that AMH concentrations in the perimenopausal to menopausal range indicate minimal to absent ovarian reserve. Depending on patient age, ovarian stimulation is likely to fail in such individuals.

AMH may be used as a surrogate to antral follicle count (AFC) at day 2 to 4 of the menstrual cycle to determine ovarian reserve. Women with an AFC greater than 15 are identified as having high ovarian reserve. In this context, a Roche AMH concentration greater than 1.77 ng/mL at day 2 to 4 of the menstrual cycle identified women with an AFC greater than 15 with 88.3% sensitivity and 68.3% specificity.(1)

Controlled ovarian stimulation (COS) with exogenous gonadotropin is an essential step of in vitro fertilization protocols. Using the Roche AMH assay, a cut-off of 2.10 ng/mL is correlated with the response categories in women undergoing COS using a gonadotropin-releasing hormone antagonist protocol. A 2.10 ng/mL cutoff provided reliable prediction of hyperresponse to COS.(2) Sensitivity for the detection of hyperresponsive individuals was 81.3%, and the negative predictive value for ruling out hyperresponse was 96.6%. The 2.10 ng/mL cutoff identified 88.9% of individuals with a poor response.(2)

In individuals with polycystic ovarian syndrome, AMH concentrations may be 2- to 5-fold higher than age-appropriate reference range values. Such high levels predict anovulatory and irregular cycles.

In children with intersex conditions, an AMH result above the normal female range is predictive of the presence of testicular tissue, while an undetectable value suggests its absence.

In boys suspected of cryptorchidism, a measurable AMH concentration is predictive of undescended testes, while an undetectable value is highly suggestive of anorchia or functional failure.

Klinefelter syndrome is characterized by accelerated germ cell depletion and occurs in approximately 10% to 12% of men presenting with nonobstructive azoospermia. In these patients, serum AMH concentrations are within the reference interval until puberty, and thereafter, AMH concentrations decline to abnormally low or undetectable levels.

Pubertal delay and congenital hypogonadotropic hypogonadism (HH) share the same clinical manifestation of delayed sexual maturation in prepubertal boys. Levels of gonadotropin and testosterone are very low in prepubertal boys and, therefore, have little clinical significance; thus, AMH measurements are useful in the differential diagnosis of pubertal delay and congenital HH. In individuals with congenital HH, AMH concentrations are abnormally low, while in pubertal delay, AMH concentrations will be within the prepubertal reference interval.

Granulosa cell tumors of the ovary may secrete AMH, inhibin A, and inhibin B. Elevated levels of any of these markers can indicate the presence of such a neoplasm in a woman with an ovarian mass. Levels should fall with successful treatment. Rising levels indicate tumor recurrence or progression.