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Persistent Mullerian duct syndrome(PMDS)

MedGen UID:
342367
Concept ID:
C1849930
Anatomical Abnormality
Synonyms: Female genital ducts in otherwise normal male; Hernia uteri inguinale; Persistent mullerian duct syndrome, types 1 and 2; PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; Persistent oviduct syndrome; PMDS; Pseudohermaphroditism, male internal
SNOMED CT: Persistent oviduct syndrome (702358005); Persistent Mullerian duct syndrome (702358005); Persistent Müllerian duct syndrome (702358005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): AMH (19p13.3); AMHR2 (12q13.13)
 
Monarch Initiative: MONDO:0009857
OMIM®: 261550
Orphanet: ORPHA2856

Definition

The persistent mullerian duct syndrome is characterized by the persistence of mullerian derivatives, uterus and tubes, in otherwise normally virilized males (summary by Knebelmann et al., 1991). [from OMIM]

Additional description

From MedlinePlus Genetics
Persistent Müllerian duct syndrome is a disorder of sexual development that affects males. Males with this disorder have normal male reproductive organs, though they also have a uterus and fallopian tubes, which are female reproductive organs. The uterus and fallopian tubes are derived from a structure called the Müllerian duct during development of the fetus. The Müllerian duct usually breaks down during early development in males, but it is retained in those with persistent Müllerian duct syndrome. Affected individuals have the normal chromosomes of a male (46,XY) and normal external male genitalia.

The first noted signs and symptoms in males with persistent Müllerian duct syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are typically discovered when surgery is performed to treat these conditions.

The testes and female reproductive organs can be located in unusual positions in persistent Müllerian duct syndrome. Occasionally, both testes are undescended (bilateral cryptorchidism) and the uterus is in the pelvis. More often, one testis has descended into the scrotum normally, and one has not. Sometimes, the descended testis pulls the fallopian tube and uterus into the track through which it has descended. This creates a condition called hernia uteri inguinalis, a form of inguinal hernia. In other cases, the undescended testis from the other side of the body is also pulled into the same track, forming an inguinal hernia. This condition, called transverse testicular ectopia, is common in people with persistent Müllerian duct syndrome.

Other effects of persistent Müllerian duct syndrome may include the inability to father children (infertility) or blood in the semen (hematospermia). Also, the undescended testes may break down (degenerate) or develop cancer if left untreated.  https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome

Clinical features

From HPO
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Bilateral cryptorchidism
MedGen UID:
96568
Concept ID:
C0431663
Congenital Abnormality
Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Decreased cirrculating antimullerian hormone circulation
MedGen UID:
1391876
Concept ID:
C4476972
Finding
A reduction below the normal range of the antimullerian hormone in the circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPersistent Mullerian duct syndrome
Follow this link to review classifications for Persistent Mullerian duct syndrome in Orphanet.

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
Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article
Misra M, MacLaughlin DT, Donahoe PK, Lee MM
J Clin Endocrinol Metab 2002 Aug;87(8):3598-602. doi: 10.1210/jcem.87.8.8742. PMID: 12161481

Recent clinical studies

Etiology

Philips MR, Menon AR, Kumar GR, Malik K, Chandrasekaran S, Ramaswamy T, Narayanaswamy K, Raja A
Urol Oncol 2023 May;41(5):258.e1-258.e6. Epub 2023 Apr 3 doi: 10.1016/j.urolonc.2023.02.008. PMID: 37019765
Yang M, Lin X, Liu Z, Zhang P, Xiao W, Chen Y, Chen Y, Zhuang Y, Zheng L, Duan S
Andrologia 2022 Dec;54(11):e14637. Epub 2022 Nov 10 doi: 10.1111/and.14637. PMID: 36357339
Xie QG, Luo P, Xia K, Li ZQ, Xu Z, Su C, Deng CH
Hum Genet 2022 Dec;141(12):1863-1873. Epub 2022 Jun 21 doi: 10.1007/s00439-022-02465-6. PMID: 35729303
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
Fernandes ET, Hollabaugh RS, Young JA, Wilroy SR, Schriock EA
Urology 1990 Dec;36(6):516-8. doi: 10.1016/0090-4295(90)80191-o. PMID: 1978951

Diagnosis

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
Gul UJ, Hussain Zaidi SA, Medhat N, Ahmad D, Khawaja FG
J Ayub Med Coll Abbottabad 2021 Oct-Dec;33(Suppl 1)(4):S818-S822. PMID: 35077632
Josso N, Rey RA
Front Endocrinol (Lausanne) 2020;11:619. Epub 2020 Sep 8 doi: 10.3389/fendo.2020.00619. PMID: 33013698Free PMC Article
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

Therapy

Yang M, Lin X, Liu Z, Zhang P, Xiao W, Chen Y, Chen Y, Zhuang Y, Zheng L, Duan S
Andrologia 2022 Dec;54(11):e14637. Epub 2022 Nov 10 doi: 10.1111/and.14637. PMID: 36357339
Stancampiano MR, Lucas-Herald AK, Bryce J, Russo G, Barera G, Balsamo A, Baronio F, Bertelloni S, Valiani M, Cools M, Tack LJW, Darendeliler F, Poyrazoglu S, Globa E, Grinspon R, Hannema SE, Hughes IA, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Mladenov V, Konrad D, Mazen I, Niedziela M, Kolesinska Z, Nordenström A, Ahmed SF
Sex Dev 2021;15(4):236-243. Epub 2021 Jul 7 doi: 10.1159/000516784. PMID: 34350903
Sharma S, Gupta DK
Pediatr Surg Int 2008 Oct;24(10):1131-5. doi: 10.1007/s00383-008-2232-7. PMID: 18704450
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
Teixeira J, Maheswaran S, Donahoe PK
Endocr Rev 2001 Oct;22(5):657-74. doi: 10.1210/edrv.22.5.0445. PMID: 11588147

Prognosis

Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article
Ambrosi F, Fiorentino M, Chessa F, Brunocilla E, D'Errico A, Bertuzzo RV, Giunchi F
Urologia 2018 Nov;85(4):177-181. Epub 2018 Mar 28 doi: 10.1177/0391560317749426. PMID: 30426882
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
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
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

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
Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article
Nagai T, Mizuno K, Usami M, Nishio H, Kato T, Nakane A, Matsumoto D, Kurokawa S, Kamisawa H, Maruyama T, Yasui T, Hayashi Y
J Med Case Rep 2020 Dec 1;14(1):233. doi: 10.1186/s13256-020-02559-7. PMID: 33256838Free PMC Article
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
Teixeira J, Maheswaran S, Donahoe PK
Endocr Rev 2001 Oct;22(5):657-74. doi: 10.1210/edrv.22.5.0445. PMID: 11588147

Recent systematic reviews

Kanakatti Shankar R, Dowlut-McElroy T, Dauber A, Gomez-Lobo V
J Clin Endocrinol Metab 2022 Jan 18;107(2):309-323. doi: 10.1210/clinem/dgab687. PMID: 34537849Free PMC Article

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