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Persistent mullerian duct syndrome, type I

MedGen UID:
857533
•Concept ID:
C3897939
•
Congenital Abnormality
Synonym: PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I
 
OMIM®: 600957

Definition

Persistent Mullerian duct syndrome due to deficiency of anti-Mullerian hormone. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPersistent mullerian duct syndrome, type I

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
Gender assignment and hormonal treatment for disorders of sexual differentiation.
Sharma S, Gupta DK
Pediatr Surg Int 2008 Oct;24(10):1131-5. doi: 10.1007/s00383-008-2232-7. PMID: 18704450

Recent clinical studies

Etiology

A novel mutation in the AMHR2 gene, resulting in persistent Müllerian duct syndrome presenting with bilateral cryptorchidism and obstructed inguinal hernia.
Fotiadou A, Achilleos O, Picard JY, Lamprinou Z, Passalides A, Vlachopapadopoulou EA
J Pediatr Endocrinol Metab 2023 Sep 26;36(9):890-894. Epub 2023 Jul 24 doi: 10.1515/jpem-2023-0245. PMID: 37480575
Persistent mullerian duct syndrome: A 24-year experience.
Saleem M, Ather U, Mirza B, Iqbal S, Sheikh A, Shaukat M, Sheikh MT, Ahmad F, Rehan T
J Pediatr Surg 2016 Oct;51(10):1721-4. Epub 2016 Jun 13 doi: 10.1016/j.jpedsurg.2016.06.005. PMID: 27329391
Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature.
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
Persistent Müllerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Müllerian remnants.
Farikullah J, Ehtisham S, Nappo S, Patel L, Hennayake S
BJU Int 2012 Dec;110(11 Pt C):E1084-9. Epub 2012 Apr 30 doi: 10.1111/j.1464-410X.2012.11184.x. PMID: 22540537
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
A novel mutation of AMHR2 in two brothers with persistent Müllerian duct syndrome and their intracytoplasmic sperm injection outcome.
Fang J, Gao G, Liu J, Cai L, Cui Y, Yang X
Mol Genet Genomic Med 2021 Oct;9(10):e1801. Epub 2021 Sep 4 doi: 10.1002/mgg3.1801. PMID: 34480531Free PMC Article
Persistent mullerian duct syndrome: A 24-year experience.
Saleem M, Ather U, Mirza B, Iqbal S, Sheikh A, Shaukat M, Sheikh MT, Ahmad F, Rehan T
J Pediatr Surg 2016 Oct;51(10):1721-4. Epub 2016 Jun 13 doi: 10.1016/j.jpedsurg.2016.06.005. PMID: 27329391
Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature.
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

Therapy

Gender assignment and hormonal treatment for disorders of sexual differentiation.
Sharma S, Gupta DK
Pediatr Surg Int 2008 Oct;24(10):1131-5. doi: 10.1007/s00383-008-2232-7. PMID: 18704450

Prognosis

The possible role of AMH in shortening the gubernacular cord in testicular descent: A reappraisal of the evidence.
Hutson JM, Lopez-Marambio FA
J Pediatr Surg 2017 Oct;52(10):1656-1660. Epub 2017 May 27 doi: 10.1016/j.jpedsurg.2017.05.021. PMID: 28599968
Persistent mullerian duct syndrome: A 24-year experience.
Saleem M, Ather U, Mirza B, Iqbal S, Sheikh A, Shaukat M, Sheikh MT, Ahmad F, Rehan T
J Pediatr Surg 2016 Oct;51(10):1721-4. Epub 2016 Jun 13 doi: 10.1016/j.jpedsurg.2016.06.005. PMID: 27329391
Persistent Müllerian duct syndrome: 8 new cases in Southern California and a review of the literature.
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
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
The possible role of AMH in shortening the gubernacular cord in testicular descent: A reappraisal of the evidence.
Hutson JM, Lopez-Marambio FA
J Pediatr Surg 2017 Oct;52(10):1656-1660. Epub 2017 May 27 doi: 10.1016/j.jpedsurg.2017.05.021. PMID: 28599968
Three novel AMH gene mutations in a patient with persistent mullerian duct syndrome and normal AMH serum dosage.
Menabò S, Balsamo A, Nicoletti A, Gennari M, Pirazzoli P, Cicognani A, Baldazzi L
Horm Res 2008;70(2):124-8. Epub 2008 Jun 12 doi: 10.1159/000137664. PMID: 18547961
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
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

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