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Disorder of AMH Receptor

MedGen UID:
858943
Concept ID:
C3899349
Disease or Syndrome

Definition

A defect in the Anti-Muellerian hormone receptor. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of AMH Receptor

Professional guidelines

PubMed

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
Bollino A, Cangiano B, Goggi G, Federici S, Duminuco P, Giovanelli L, Galazzi E, Vezzoli V, Persani L, Bonomi M
Minerva Pediatr 2020 Aug;72(4):278-287. Epub 2020 May 15 doi: 10.23736/S0026-4946.20.05860-0. PMID: 32418410
Rodriguez-Garcia A, Sharma P, Poussin M, Boesteanu AC, Minutolo NG, Gitto SB, Omran DK, Robinson MK, Adams GP, Simpkins F, Powell DJ Jr
Mol Ther 2020 Feb 5;28(2):548-560. Epub 2019 Dec 6 doi: 10.1016/j.ymthe.2019.11.028. PMID: 31870622Free PMC Article

Recent clinical studies

Etiology

Zhong X, Jin F, Huang C, Du M, Gao M, Wei X
Technol Health Care 2021;29(S1):11-25. doi: 10.3233/THC-218002. PMID: 33682741Free PMC Article
Fu YX, Yang HM, OuYang XE, Hu R, Hu T, Wang FM
Reprod Sci 2021 Feb;28(2):406-415. Epub 2020 Aug 26 doi: 10.1007/s43032-020-00303-6. PMID: 32845508
Wang F, Niu WB, Kong HJ, Guo YH, Sun YP
Mol Cell Endocrinol 2017 Jan 5;439:363-368. Epub 2016 Sep 21 doi: 10.1016/j.mce.2016.09.023. PMID: 27664518
Pabalan N, Montagna E, Singian E, Tabangay L, Jarjanazi H, Barbosa CP, Bianco B
Cell Physiol Biochem 2016;39(6):2249-2261. Epub 2016 Nov 7 doi: 10.1159/000447918. PMID: 27832628
Jameson JL
Growth Horm IGF Res 2004 Jun;14 Suppl A:S45-50. doi: 10.1016/j.ghir.2004.03.012. PMID: 15135777

Diagnosis

Gowkielewicz M, Lipka A, Zdanowski W, Waśniewski T, Majewska M, Carlberg C
Front Endocrinol (Lausanne) 2024;15:1468364. Epub 2024 Sep 16 doi: 10.3389/fendo.2024.1468364. PMID: 39351532Free PMC Article
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
Brunello FG, Rey RA
Sex Dev 2022;16(2-3):138-146. Epub 2021 Aug 31 doi: 10.1159/000518273. PMID: 34515230
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
Josso N, Rey RA
Front Endocrinol (Lausanne) 2020;11:619. Epub 2020 Sep 8 doi: 10.3389/fendo.2020.00619. PMID: 33013698Free PMC Article

Therapy

Fu YX, Yang HM, OuYang XE, Hu R, Hu T, Wang FM
Reprod Sci 2021 Feb;28(2):406-415. Epub 2020 Aug 26 doi: 10.1007/s43032-020-00303-6. PMID: 32845508
Du DF, Li XL, Zheng SH
J Obstet Gynaecol Res 2016 Dec;42(12):1761-1767. Epub 2016 Oct 8 doi: 10.1111/jog.13118. PMID: 27718294
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

Rodriguez-Garcia A, Sharma P, Poussin M, Boesteanu AC, Minutolo NG, Gitto SB, Omran DK, Robinson MK, Adams GP, Simpkins F, Powell DJ Jr
Mol Ther 2020 Feb 5;28(2):548-560. Epub 2019 Dec 6 doi: 10.1016/j.ymthe.2019.11.028. PMID: 31870622Free PMC Article
Gorsic LK, Dapas M, Legro RS, Hayes MG, Urbanek M
J Clin Endocrinol Metab 2019 Jul 1;104(7):2855-2874. doi: 10.1210/jc.2018-02178. PMID: 30786001Free PMC Article
Salehi P, Koh CJ, Pitukcheewanont P, Trinh L, Daniels M, Geffner M
Pediatr Endocrinol Rev 2012 Dec-2013 Jan;10(2):227-33. PMID: 23539834
Nishi MY, Domenice S, Maciel-Guerra AT, Zaba Neto A, Silva MA, Costa EM, Guerra-Junior G, Mendonca BB
Arq Bras Endocrinol Metabol 2012 Nov;56(8):473-8. doi: 10.1590/s0004-27302012000800002. PMID: 23295284
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

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
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
Fu YX, Yang HM, OuYang XE, Hu R, Hu T, Wang FM
Reprod Sci 2021 Feb;28(2):406-415. Epub 2020 Aug 26 doi: 10.1007/s43032-020-00303-6. PMID: 32845508
Du DF, Li XL, Zheng SH
J Obstet Gynaecol Res 2016 Dec;42(12):1761-1767. Epub 2016 Oct 8 doi: 10.1111/jog.13118. PMID: 27718294
Nishi MY, Domenice S, Maciel-Guerra AT, Zaba Neto A, Silva MA, Costa EM, Guerra-Junior G, Mendonca BB
Arq Bras Endocrinol Metabol 2012 Nov;56(8):473-8. doi: 10.1590/s0004-27302012000800002. PMID: 23295284

Recent systematic reviews

Wang F, Niu WB, Kong HJ, Guo YH, Sun YP
Mol Cell Endocrinol 2017 Jan 5;439:363-368. Epub 2016 Sep 21 doi: 10.1016/j.mce.2016.09.023. PMID: 27664518
Pabalan N, Montagna E, Singian E, Tabangay L, Jarjanazi H, Barbosa CP, Bianco B
Cell Physiol Biochem 2016;39(6):2249-2261. Epub 2016 Nov 7 doi: 10.1159/000447918. PMID: 27832628

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