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Persistent mullerian duct syndrome, type II

MedGen UID:
857534
•Concept ID:
C3897940
•
Congenital Abnormality
Synonym: PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
 
OMIM®: 600956

Definition

Persistent Mullerian duct syndrome due to resistance to anti-Mullerian hormone (AMH), resulting from mutations in the AMH receptor (AMHR) gene. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

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

Diagnostic and therapeutic challenges with germ cell tumours associated with transverse testicular ectopia and persistent Müllerian duct syndrome.
Upadhyay AK, Pradhan S, Shekhar S, Jakka SD, Kumar A, Rana F
BMJ Case Rep 2024 May 28;17(5) doi: 10.1136/bcr-2024-260905. PMID: 38806400
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 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
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

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
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
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
AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome.
Mazen I, Abdel Hamid MS, El-Gammal M, Aref A, Amr K
Sex Dev 2011;5(6):277-80. Epub 2011 Dec 20 doi: 10.1159/000334854. PMID: 22188863
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

Prognosis

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

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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