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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, Type I; Persistent mullerian duct syndrome, types 1 and 2; PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; Persistent oviduct syndrome; PMDS; Pseudohermaphroditism, male internal
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Persistent oviduct syndrome (702358005); Persistent Mullerian duct syndrome (702358005); Persistent Müllerian duct syndrome (702358005)
 
Genes (locations): AMH (19p13.3); AMHR2 (12q13.13)
OMIM®: 261550

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 GTR]

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/261550
From GHR
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://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome

Clinical features

Abnormality of circulating hormone level
MedGen UID:
871176
Concept ID:
C4025652
Finding
An abnormal concentration of a hormone in the blood.
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 testis.
Abnormality of male internal genitalia
MedGen UID:
446332
Concept ID:
CN000023
Finding
An abnormality of the male internal genitalia.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
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 testis.
Abnormality of male internal genitalia
MedGen UID:
446332
Concept ID:
CN000023
Finding
An abnormality of the male internal genitalia.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.

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.

Recent clinical studies

Etiology

Elias-Assad G, Elias M, Kanety H, Pressman A, Tenenbaum-Rakover Y
Pediatr Endocrinol Rev 2016 Jun;13(4):731-40. PMID: 27464416
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
Wei CH, Wang NL, Ting WH, Du YC, Fu YW
J Pediatr Urol 2014 Oct;10(5):929-33. Epub 2014 Feb 8 doi: 10.1016/j.jpurol.2014.01.012. PMID: 24594348
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
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

Diagnosis

Da Aw L, Zain MM, Esteves SC, Humaidan P
Int Braz J Urol 2016 Nov-Dec;42(6):1237-1243. PMID: 27532119Free PMC Article
Elias-Assad G, Elias M, Kanety H, Pressman A, Tenenbaum-Rakover Y
Pediatr Endocrinol Rev 2016 Jun;13(4):731-40. PMID: 27464416
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
Bowen DK, Matulewicz RS, Gong EM
J Pediatr Urol 2016 Feb;12(1):65-6. Epub 2015 Nov 5 doi: 10.1016/j.jpurol.2015.08.024. PMID: 26619795
Wongprasert H, Somanunt S, De Filippo R, Picard JY, Pitukcheewanont P
J Pediatr Urol 2013 Aug;9(4):e147-9. Epub 2013 Apr 20 doi: 10.1016/j.jpurol.2013.03.004. PMID: 23611722

Therapy

Sharma S, Gupta DK
Pediatr Surg Int 2008 Oct;24(10):1131-5. doi: 10.1007/s00383-008-2232-7. PMID: 18704450
Kella N, Rathi PK, Qureshi MA
J Coll Physicians Surg Pak 2008 Apr;18(4):250-1. doi: 04.2008/JCPSP.250251. PMID: 18474165
Giri SK, Berney D, O'Driscoll J, Drumm J, Flood HD, Gupta RK
Lancet Oncol 2004 Jul;5(7):451-2. doi: 10.1016/S1470-2045(04)01513-X. PMID: 15231252
MacLaughlin DT, Donahoe PK
Adv Exp Med Biol 2002;511:25-38; discussion 38-40. 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

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
Morikawa S, Moriya K, Ishizu K, Tajima T
J Pediatr Endocrinol Metab 2014 Nov;27(11-12):1223-6. doi: 10.1515/jpem-2014-0111. PMID: 25026127
Gupta A, Panda N, Saha ML, Ganguly S, Bandyopadhyay SK, Das R
Urol J 2013 Spring;10(2):909-11. PMID: 23801478
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. PMID: 23295284

Clinical prediction guides

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. PMID: 23295284
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
Mitre AI, Castilho LN, Avarese de Figueiredo A, Arap S
Urology 2002 Oct;60(4):698. PMID: 12385946
Lang-Muritano M, Biason-Lauber A, Gitzelmann C, Belville C, Picard Y, Schoenle EJ
Eur J Pediatr 2001 Nov;160(11):652-4. PMID: 11760020
Masereel B, Michiels G
Acta Chir Belg 1999 Oct;99(5):256-9. PMID: 10582079

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