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Defect in the Gene for MIS Type II Receptor

MedGen UID:
858993
•Concept ID:
C3899399
•
Cell or Molecular Dysfunction
Synonym: AMHR2 Gene Defect

Definition

A defect in the MISR II gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDefect in the Gene for MIS Type II Receptor

Professional guidelines

PubMed

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.
Tian HJ, Wu DH, Ru W, Wu DW, Tao C, Chen GJ, Yuan JN, Fu JF, Tang DX
Asian J Androl 2022 Jan-Feb;24(1):78-84. doi: 10.4103/aja202175. PMID: 34810374Free PMC Article
Mutations of the AMH type II receptor in two extended families with persistent Müllerian duct syndrome: lack of phenotype/genotype correlation.
Abduljabbar M, Taheini K, Picard JY, Cate RL, Josso N
Horm Res Paediatr 2012;77(5):291-7. Epub 2012 May 11 doi: 10.1159/000338343. PMID: 22584735

Recent clinical studies

Etiology

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Mazen I, Mekkawy M, Kamel A, Essawi M, Hassan H, Abdel-Hamid M, Amr K, Soliman H, El-Ruby M, Torky A, El Gammal M, Elaidy A, Bashamboo A, McElreavey K
Am J Med Genet A 2021 Jun;185(6):1666-1677. Epub 2021 Mar 19 doi: 10.1002/ajmg.a.62129. PMID: 33742552
Combined study on the single nucleotide polymorphisms in the follicle-stimulating hormone receptor (Ser680Asn) and anti-Müllerian hormone receptor type II (-482A>G) as genetic markers in assisted reproduction.
Papanikolaou IG, Giannelou P, Anagnostou E, Mavrogianni D, Drakakis P, Loutradis D
Horm Mol Biol Clin Investig 2019 Mar 25;38(1) doi: 10.1515/hmbci-2018-0077. PMID: 30904901
Increased frequency of the anti-mullerian-inhibiting hormone receptor 2 (AMHR2) 482 A>G polymorphism in women with polycystic ovary syndrome: relationship to luteinizing hormone levels.
Georgopoulos NA, Karagiannidou E, Koika V, Roupas ND, Armeni A, Marioli D, Papadakis E, Welt CK, Panidis D
J Clin Endocrinol Metab 2013 Nov;98(11):E1866-70. Epub 2013 Aug 22 doi: 10.1210/jc.2013-2458. PMID: 23969185Free PMC Article
Role for anti-Müllerian hormone in congenital absence of the uterus and vagina.
Resendes BL, Sohn SH, Stelling JR, Tineo R, Davis AJ, Gray MR, Reindollar RH
Am J Med Genet 2001 Jan 15;98(2):129-36. doi: 10.1002/1096-8628(20010115)98:2<129::aid-ajmg1021>3.0.co;2-3. PMID: 11223848
Persistence of Müllerian derivatives in males.
Belville C, Josso N, Picard JY
Am J Med Genet 1999 Dec 29;89(4):218-23. doi: 10.1002/(sici)1096-8628(19991229)89:4<218::aid-ajmg6>3.0.co;2-e. PMID: 10727997

Diagnosis

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.
Tian HJ, Wu DH, Ru W, Wu DW, Tao C, Chen GJ, Yuan JN, Fu JF, Tang DX
Asian J Androl 2022 Jan-Feb;24(1):78-84. doi: 10.4103/aja202175. PMID: 34810374Free PMC Article
AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.
Brunello FG, Rey RA
Sex Dev 2022;16(2-3):138-146. Epub 2021 Aug 31 doi: 10.1159/000518273. PMID: 34515230
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Mazen I, Mekkawy M, Kamel A, Essawi M, Hassan H, Abdel-Hamid M, Amr K, Soliman H, El-Ruby M, Torky A, El Gammal M, Elaidy A, Bashamboo A, McElreavey K
Am J Med Genet A 2021 Jun;185(6):1666-1677. Epub 2021 Mar 19 doi: 10.1002/ajmg.a.62129. PMID: 33742552
Testicular anti-Müllerian hormone: clinical applications in DSD.
Josso N, Rey R, Picard JY
Semin Reprod Med 2012 Oct;30(5):364-73. Epub 2012 Oct 8 doi: 10.1055/s-0032-1324719. PMID: 23044872
Mullerian inhibiting substance: an update.
MacLaughlin DT, Donahoe PK
Adv Exp Med Biol 2002;511:25-38; discussion 38-40. doi: 10.1007/978-1-4615-0621-8_3. PMID: 12575754

Therapy

Mullerian inhibiting substance: an update.
MacLaughlin DT, Donahoe PK
Adv Exp Med Biol 2002;511:25-38; discussion 38-40. doi: 10.1007/978-1-4615-0621-8_3. PMID: 12575754

Prognosis

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.
Li L, Zhou X, Wang X, Wang J, Zhang W, Wang B, Cao Y, Kee K
Mol Hum Reprod 2016 Sep;22(9):669-78. Epub 2016 Jul 18 doi: 10.1093/molehr/gaw040. PMID: 27430550
A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.
Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY
Hum Mol Genet 1996 Sep;5(9):1269-77. doi: 10.1093/hmg/5.9.1269. PMID: 8872466

Clinical prediction guides

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.
Tian HJ, Wu DH, Ru W, Wu DW, Tao C, Chen GJ, Yuan JN, Fu JF, Tang DX
Asian J Androl 2022 Jan-Feb;24(1):78-84. doi: 10.4103/aja202175. PMID: 34810374Free PMC Article
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Mazen I, Mekkawy M, Kamel A, Essawi M, Hassan H, Abdel-Hamid M, Amr K, Soliman H, El-Ruby M, Torky A, El Gammal M, Elaidy A, Bashamboo A, McElreavey K
Am J Med Genet A 2021 Jun;185(6):1666-1677. Epub 2021 Mar 19 doi: 10.1002/ajmg.a.62129. PMID: 33742552
Increased frequency of the anti-mullerian-inhibiting hormone receptor 2 (AMHR2) 482 A>G polymorphism in women with polycystic ovary syndrome: relationship to luteinizing hormone levels.
Georgopoulos NA, Karagiannidou E, Koika V, Roupas ND, Armeni A, Marioli D, Papadakis E, Welt CK, Panidis D
J Clin Endocrinol Metab 2013 Nov;98(11):E1866-70. Epub 2013 Aug 22 doi: 10.1210/jc.2013-2458. PMID: 23969185Free PMC Article
Association study of four key folliculogenesis genes in polycystic ovary syndrome.
Sproul K, Jones MR, Mathur R, Azziz R, Goodarzi MO
BJOG 2010 May;117(6):756-60. Epub 2010 Mar 12 doi: 10.1111/j.1471-0528.2010.02527.x. PMID: 20236105Free PMC Article
Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor.
Imbeaud S, Faure E, Lamarre I, Mattéi MG, di Clemente N, Tizard R, Carré-Eusèbe D, Belville C, Tragethon L, Tonkin C, Nelson J, McAuliffe M, Bidart JM, Lababidi A, Josso N, Cate RL, Picard JY
Nat Genet 1995 Dec;11(4):382-8. doi: 10.1038/ng1295-382. PMID: 7493017

Recent systematic reviews

Association of gene polymorphisms in the anti-Müllerian hormone signalling pathway with ovarian function: a systematic review and meta-analysis.
Cheng R, Xiong W, Luo X, Ma Y, Nie Y, Qiao X, Chen H, Hu Y, Xu L
Reprod Biomed Online 2019 Sep;39(3):513-521. Epub 2019 Apr 26 doi: 10.1016/j.rbmo.2019.04.010. PMID: 31253588

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