Anti-Müllerian hormone (AMH) is a dimeric glycoprotein hormone in the transforming growth factor beta superfamily, encoded by the AMH gene, and secreted primarily by embryonic Sertoli cells in males and ovarian granulosa cells in females. In male embryos, AMH induces regression of Müllerian ducts, preventing the development of female reproductive organs, and in females, AMH regulates the recruitment and maturation of ovarian follicles, serving as a key marker of ovarian reserve. AMH acts through the specific AMH receptor type II (AMHR2) to activate intracellular SMAD signaling, influencing cell survival, proliferation, and apoptosis in reproductive tissues. Clinically, AMH is a core biomarker for evaluating ovarian function and reserve, guiding assisted reproductive technology decisions, diagnosing reproductive disorders, and is undergoing investigation as a therapeutic and diagnostic target in ovarian and other Müllerian-derived cancers.
Induces apoptosis through activation of the AMH type II receptor (AMHR2) leading to SMAD signaling pathway activation in target tissues. Antibody drugs under investigation act as AMHR2 agonists or antagonists to modulate reproductive tissue proliferation or cancer cell survival.
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Biological functions
Sexual differentiation (inhibition of Müllerian duct development in males)Regulation of folliculogenesis and ovarian reserve in femalesNegative regulation of primordial follicle recruitmentRegulation of gonadotropin secretionCell cycle inhibition and induction of apoptosis (in specific tissues)Possible neuroprotective and growth factor roles in neurons
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Disease associations
Disorders of sexual development (e.g., persistent Müllerian duct syndrome)Ovarian dysfunction (including diminished ovarian reserve, premature ovarian insufficiency, polycystic ovary syndrome)Cancer (particularly ovarian, endometrial, and possibly other Müllerian-derived tumors)Potential biomarker/target in Turner syndromePossible involvement in neurodegenerative disease (experimental)
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Safety considerations
Therapeutic targeting of AMH/AMHR2 may affect fertility and reproductive endocrine functionConcerns for unintended interference with normal ovary or testis development/functionUnknown effects on other tissues expressing AMH/AMHR2 (e.g., pituitary, neurons)
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Interacting drugs
No approved drugs directly target AMH itself, but investigational uses and antibody therapies targeting the AMH receptor (AMHR2) are under study for cancer and reproductive disorders
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Biomarkers
Blood AMH levels (marker of ovarian reserve, ovarian function, and follicle quantity)Marker for diagnosis/monitoring in polycystic ovary syndrome, premature ovarian insufficiency, and assisted reproductive technology outcomesDiagnostic marker for some disorders of sex development and monitoring patients with ovarian tumors
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