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Gene Review

AMH  -  anti-Mullerian hormone

Homo sapiens

Synonyms: Anti-Muellerian hormone, MIF, MIS, Muellerian-inhibiting factor, Muellerian-inhibiting substance
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Disease relevance of AMH


Psychiatry related information on AMH

  • This population is suitable to test the influence of an absence of androgens and Müllerian inhibiting substance on psychosexual development in genetic males [7].
  • Pain thresholds in normal skin were matched only by the response thresholds of CMH and not AMH nociceptors [8].
  • Secretion of AMH begins shortly after testicular differentiation and lasts into the perinatal period; however, the müllerian duct is responsive to AMH only during a short "critical" period at the end of the ambisexual stage [9].
  • The present study was designed to investigate a variety of visual deficits reported by children who experience high levels of visual stress and perceptual distortions when reading (Meares-Irlen syndrome; MIS) and to assess the improvements in visual comfort they report when tinted lenses are worn [10].
  • Psychometric functions also revealed no significant difference between subject groups (control versus MIS) [10].

High impact information on AMH


Chemical compound and disease context of AMH


Biological context of AMH


Anatomical context of AMH

  • To understand the hierarchies of these factors and their involvement in the developing testis, for the first time we show the expression and subcellular localization of these factors by immunohistochemistry in the early human testis during embryogenesis compared with AMH expression [21].
  • Components of the AMH signaling pathway have been identified in gonads and gonadal cell lines [19].
  • Anti-Müllerian hormone (AMH) is a member of the Transforming Growth Factor-beta (TGF-beta) family implicated in the regression of Müllerian ducts in male fetuses and in the development and function of gonads of both sexes [19].
  • In birds, AMH is expressed both in the male and female fetal gonads, and, like in reptiles, its expression is not preceded by that of SOX9 [22].
  • When the hypothalamic-pituitary axis is active and the negative effect of androgens and germ cells is absent, for example, in the fetal and neonatal periods or in disorders like androgen insensitivity, FSH upregulates AMH expression through a nonclassical cAMP-PKA pathway involving transcription factors AP2 and NFkappaB [22].

Associations of AMH with chemical compounds


Regulatory relationships of AMH


Other interactions of AMH

  • Our work thus identifies SOX9 as an interaction partner of SF-1 that could be involved in the Sertoli cell-specific expression of AMH during embryogenesis [18].
  • Finally, normal cervical tissue expresses the MIS type II receptor in vivo, supporting the idea that MIS could be a targeted therapy for cervical cancer [2].
  • Our results suggest that MIS is a natural substrate for PC5, thereby supporting a role for prohormone convertases in the activation of transforming growth factor beta-related hormones during development [34].
  • High GATA-4 expression associates with aggressive behavior, whereas low anti-Müllerian hormone expression associates with growth potential of ovarian granulosa cell tumors [35].
  • Furthermore, the over-expression of the exogenous SF-1 inhibited the activation of the MIS promoter with ER alpha [36].

Analytical, diagnostic and therapeutic context of AMH


  1. Assessment of seminiferous tubule function (anti-müllerian hormone). Rey, R. Baillière's best practice & research. Clinical endocrinology & metabolism. (2000) [Pubmed]
  2. Mullerian Inhibiting Substance inhibits cervical cancer cell growth via a pathway involving p130 and p107. Barbie, T.U., Barbie, D.A., MacLaughlin, D.T., Maheswaran, S., Donahoe, P.K. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  3. Testicular dysgenesis does not affect expression of anti-müllerian hormone by Sertoli cells in premeiotic seminiferous tubules. Rey, R., al-Attar, L., Louis, F., Jaubert, F., Barbet, P., Nihoul-Fékété, C., Chaussain, J.L., Josso, N. Am. J. Pathol. (1996) [Pubmed]
  4. Mullerian Inhibiting Substance enhances subclinical doses of chemotherapeutic agents to inhibit human and mouse ovarian cancer. Pieretti-Vanmarcke, R., Donahoe, P.K., Pearsall, L.A., Dinulescu, D.M., Connolly, D.C., Halpern, E.F., Seiden, M.V., MacLaughlin, D.T. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  5. The use of anti-mullerian hormone in predicting menstrual response after weight loss in overweight women with polycystic ovary syndrome. Moran, L.J., Noakes, M., Clifton, P.M., Norman, R.J. J. Clin. Endocrinol. Metab. (2007) [Pubmed]
  6. The Anti-Mullerian hormone and ovarian cancer. La Marca, A., Volpe, A. Hum. Reprod. Update (2007) [Pubmed]
  7. Medical and psychosexual outcome in women affected by complete gonadal dysgenesis. McCarty, B.M., Migeon, C.J., Meyer-Bahlburg, H.F., Zacur, H., Wisniewski, A.B. J. Pediatr. Endocrinol. Metab. (2006) [Pubmed]
  8. Peripheral neural mechanisms of cutaneous hyperalgesia following mild injury by heat. LaMotte, R.H., Thalhammer, J.G., Torebjörk, H.E., Robinson, C.J. J. Neurosci. (1982) [Pubmed]
  9. The anti-Müllerian hormone. Josso, N., Picard, J.Y., Tran, D. Birth Defects Orig. Artic. Ser. (1977) [Pubmed]
  10. Spatiotemporal visual function in tinted lens wearers. Simmers, A.J., Bex, P.J., Smith, F.K., Wilkins, A.J. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
  11. Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Nachtigal, M.W., Hirokawa, Y., Enyeart-VanHouten, D.L., Flanagan, J.N., Hammer, G.D., Ingraham, H.A. Cell (1998) [Pubmed]
  12. Measurements of serum müllerian inhibiting substance in the evaluation of children with nonpalpable gonads. Lee, M.M., Donahoe, P.K., Silverman, B.L., Hasegawa, T., Hasegawa, Y., Gustafson, M.L., Chang, Y.C., MacLaughlin, D.T. N. Engl. J. Med. (1997) [Pubmed]
  13. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency. Mallet, D., Bretones, P., Michel-Calemard, L., Dijoud, F., David, M., Morel, Y. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  14. Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia. Stuchi-Perez, E.G., Lukas-Croisier, C., De Castro, M., Baptista, M.T., Ribeiro Scolfaro, M., Marques-De-Faria, A.P., Hackel, C., Maciel-Guerra, A.T., Guerra Júnior, G. Journal of pediatric endocrinology & metabolism : JPEM. (2000) [Pubmed]
  15. Effects of the dopaminergic agent and NMDA receptor antagonist amantadine on cognitive function, cerebral glucose metabolism and D2 receptor availability in chronic traumatic brain injury: a study using positron emission tomography (PET). Kraus, M.F., Smith, G.S., Butters, M., Donnell, A.J., Dixon, E., Yilong, C., Marion, D. Brain injury : [BI]. (2005) [Pubmed]
  16. Activation of a pertussis toxin-sensitive, inhibitory G-protein is necessary for steroid-mediated oocyte maturation in spotted seatrout. Pace, M.C., Thomas, P. Dev. Biol. (2005) [Pubmed]
  17. The relationship between müllerian inhibiting substance and androgens in boys with hypospadias. Austin, P.F., Siow, Y., Fallat, M.E., Cain, M.P., Rink, R.C., Casale, A.J. J. Urol. (2002) [Pubmed]
  18. Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. De Santa Barbara, P., Bonneaud, N., Boizet, B., Desclozeaux, M., Moniot, B., Sudbeck, P., Scherer, G., Poulat, F., Berta, P. Mol. Cell. Biol. (1998) [Pubmed]
  19. Components of the anti-Müllerian hormone signaling pathway in gonads. di Clemente, N., Josso, N., Gouédard, L., Belville, C. Mol. Cell. Endocrinol. (2003) [Pubmed]
  20. Mullerian inhibiting substance inhibits ovarian cell growth through an Rb-independent mechanism. Ha, T.U., Segev, D.L., Barbie, D., Masiakos, P.T., Tran, T.T., Dombkowski, D., Glander, M., Clarke, T.R., Lorenzo, H.K., Donahoe, P.K., Maheswaran, S. J. Biol. Chem. (2000) [Pubmed]
  21. Expression and subcellular localization of SF-1, SOX9, WT1, and AMH proteins during early human testicular development. de Santa Barbara, P., Moniot, B., Poulat, F., Berta, P. Dev. Dyn. (2000) [Pubmed]
  22. Subcellular and molecular mechanisms regulating anti-Müllerian hormone gene expression in mammalian and nonmammalian species. Lasala, C., Carré-Eusèbe, D., Picard, J.Y., Rey, R. DNA Cell Biol. (2004) [Pubmed]
  23. AMH/MIS: what we know already about the gene, the protein and its regulation. Rey, R., Lukas-Croisier, C., Lasala, C., Bedecarrás, P. Mol. Cell. Endocrinol. (2003) [Pubmed]
  24. Reduction of epidermal growth factor receptor phosphorylation by activated Mullerian inhibiting substance is vanadate-sensitive. Maggard, M.A., Catlin, E.A., Hudson, P.L., Donahoe, P.K., MacLaughlin, D.T. Metab. Clin. Exp. (1996) [Pubmed]
  25. Elevated serum level of anti-mullerian hormone in patients with polycystic ovary syndrome: relationship to the ovarian follicle excess and to the follicular arrest. Pigny, P., Merlen, E., Robert, Y., Cortet-Rudelli, C., Decanter, C., Jonard, S., Dewailly, D. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  26. Anti-Mullerian hormone is a sensitive serum marker for gonadal function in women treated for Hodgkin's lymphoma during childhood. van Beek, R.D., van den Heuvel-Eibrink, M.M., Laven, J.S., de Jong, F.H., Themmen, A.P., Hakvoort-Cammel, F.G., van den Bos, C., van den Berg, H., Pieters, R., de Muinck Keizer-Schrama, S.M. J. Clin. Endocrinol. Metab. (2007) [Pubmed]
  27. Anti-Müllerian hormone concentrations in the follicular fluid of the preovulatory follicle are predictive of the implantation potential of the ensuing embryo obtained by in vitro fertilization. Fanchin, R., Mendez Lozano, D.H., Frydman, N., Gougeon, A., di Clemente, N., Frydman, R., Taieb, J. J. Clin. Endocrinol. Metab. (2007) [Pubmed]
  28. A functional anti-mullerian hormone gene polymorphism is associated with follicle number and androgen levels in polycystic ovary syndrome patients. Kevenaar, M.E., Laven, J.S., Fong, S.L., Uitterlinden, A.G., de Jong, F.H., Themmen, A.P., Visser, J.A. J. Clin. Endocrinol. Metab. (2008) [Pubmed]
  29. Concentration of anti-Müllerian hormone and inhibin-B in relation to steroids and age in follicular fluid from small antral human follicles. Yding Andersen, C., Rosendahl, M., Byskov, A.G. J. Clin. Endocrinol. Metab. (2008) [Pubmed]
  30. Recombinant human Mullerian inhibiting substance inhibits long-term growth of MIS type II receptor-directed transgenic mouse ovarian cancers in vivo. Pieretti-Vanmarcke, R., Donahoe, P.K., Szotek, P., Manganaro, T., Lorenzen, M.K., Lorenzen, J., Connolly, D.C., Halpern, E.F., MacLaughlin, D.T. Clin. Cancer Res. (2006) [Pubmed]
  31. Mullerian Inhibiting Substance Regulates Androgen-Induced Gene Expression and Growth in Prostate Cancer Cells through a Nuclear Factor-{kappa}B-Dependent Smad-Independent Mechanism. Tran, T.T., Segev, D.L., Gupta, V., Kawakubo, H., Yeo, G., Donahoe, P.K., Maheswaran, S. Mol. Endocrinol. (2006) [Pubmed]
  32. Mullerian Inhibiting Substance induces NFkB signaling in breast and prostate cancer cells. Hoshiya, Y., Gupta, V., Segev, D.L., Hoshiya, M., Carey, J.L., Sasur, L.M., Tran, T.T., Ha, T.U., Maheswaran, S. Mol. Cell. Endocrinol. (2003) [Pubmed]
  33. Immunohistochemical characterization of alveolar macrophages and pulmonary giant cells in fatal asphyxia. Grellner, W., Madea, B. Forensic Sci. Int. (1996) [Pubmed]
  34. Bioactivation of Müllerian inhibiting substance during gonadal development by a kex2/subtilisin-like endoprotease. Nachtigal, M.W., Ingraham, H.A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  35. High GATA-4 expression associates with aggressive behavior, whereas low anti-Müllerian hormone expression associates with growth potential of ovarian granulosa cell tumors. Anttonen, M., Unkila-Kallio, L., Leminen, A., Butzow, R., Heikinheimo, M. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  36. Roles of estrogen receptor alpha (ER alpha) in the regulation of the human Müllerian inhibitory substance (MIS) promoter. Chen, G., Shinka, T., Kinoshita, K., Yan, H.T., Iwamoto, T., Nakahori, Y. J. Med. Invest. (2003) [Pubmed]
  37. Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. Hoshiya, M., Christian, B.P., Cromie, W.J., Kim, H., Zhan, Y., MacLaughlin, D.T., Donahoe, P.K. Birth defects research. Part A, Clinical and molecular teratology. (2003) [Pubmed]
  38. Anti-müllerian hormone and anti-müllerian hormone type II receptor messenger ribonucleic acid expression in rat ovaries during postnatal development, the estrous cycle, and gonadotropin-induced follicle growth. Baarends, W.M., Uilenbroek, J.T., Kramer, P., Hoogerbrugge, J.W., van Leeuwen, E.C., Themmen, A.P., Grootegoed, J.A. Endocrinology (1995) [Pubmed]
  39. Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family. Carré-Eusèbe, D., Imbeaud, S., Harbison, M., New, M.I., Josso, N., Picard, J.Y. Hum. Genet. (1992) [Pubmed]
  40. Serum anti-Müllerian hormone levels: a novel measure of ovarian reserve. van Rooij, I.A., Broekmans, F.J., te Velde, E.R., Fauser, B.C., Bancsi, L.F., de Jong, F.H., Themmen, A.P. Hum. Reprod. (2002) [Pubmed]
  41. Regulation of testicular anti-M ullerian hormone secretion. Rey, R., Josso, N. Eur. J. Endocrinol. (1996) [Pubmed]
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