Persistent Mullerian Duct Syndrome, Types I and II

Alternative Names

  • PMDS
  • Pseudohermaphroditism, Male Internal
  • Hernia Uteri Inguinale
  • Persistent Oviduct Syndrome
  • Female Genital Ducts in otherwise Normal Male
  • Mullerian Derivatives, Persistent
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of genital organs

OMIM Number

261550

Mode of Inheritance

Autosomal recessive with male sex limitation

Gene Map Locus

12q13,19p13.3-p13.2

Description

The persistent Mullerian (paramesonephric) duct, or the uterine hernia, syndrome is a rare disorder of male sexual development. It is characterized by the persistence of the uterus, fallopian tubes and upper vagina in otherwise normally virilized boys. Despite the normal male genotype and the subsequent normal development of fetal testis, Mullerian structures do not regress due to failure in production or in response to the anti-Mullerian hormone. Since the secretion and action of testosterone is not affected, the Wolffian (mesonephric) duct derivatives and the external genitalia of the fetus progress in the normal male direction. An intersex condition is, therefore, not usually suspected but the malformation is incidentally detected during operative treatment of associated abnormalities such as inguinal hernia and undescended testis, generally in the first year of life.

The diagnosis of persistent Mullerian duct syndrome is often established when a uterus and/or fallopian tube is found along with undescended testis in a genotypically and phenotypically normal male child during repair of inguinal hernia. The relative risk of testicular tumor is not increased in patients with persistent Mullerian duct syndrome if orchiopexy is performed before two years of age. The aetiology of persistent Mullerian duct syndrome is poorly understood. Some studies suggest that inheritance which may be either X-linked or autosomal recessive with male sex limitation is a possible cause of the disorder. The observation that most cases of persistent Mullerian duct syndrome are bilateral is noteworthy. Anti-Mullerian hormone is secreted by the Sertoli cells of the fetal testis and acts ipsilaterally. The sensitivity of Mullerian duct to this hormone is present only during the ambisexual stage of the embryonic period.

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
261550.1Saudi ArabiaMaleNo Abnormality of male internal genitalia; ...NM_020547.3:c.994C>THomozygousAutosomal, RecessiveAl-Faris et al. 2016
261550.2.01Saudi ArabiaMaleYesYes Abnormality of male internal genitalia; ...NM_020547.3:c.1219C>THomozygousAutosomal, RecessiveAbduljabbar et al. 2012 Index patient
261550.2.02Saudi ArabiaMaleYesYes Abnormality of male internal genitalia; ...NM_020547.3:c.1219C>THomozygousAutosomal, RecessiveAbduljabbar et al. 2012 Brother of 261550.2....
261550.2.03Saudi ArabiaMaleYesYes Abnormality of male internal genitalia; ...NM_020547.3:c.1219C>THomozygousAutosomal, RecessiveAbduljabbar et al. 2012 Brother of 261550.2....
261550.2.04Saudi ArabiaMaleYesYes Abnormality of male internal genitalia; ...NM_020547.3:c.1219C>THomozygousAutosomal, RecessiveAbduljabbar et al. 2012 Brother of 261550.2....
261550.3.1JordanMaleYesNo Abnormality of male internal genitaliaNM_020547.3:c.762C>GHomozygousAutosomal, RecessiveAbduljabbar et al. 2012

Other Reports

Kuwait

Naguib et al. (1989) reported an Arab Bedouin family including four males (2 brothers and 2 of their maternal uncles) with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal hernia, cryptochidism, and persistence of Mullerian derivatives. 

In 1990, Mahfouz et al. (1990) described two Arab boys with a rare combination of persistent Mullerian duct syndrome and crossed testicular ectopia.

Oman

Rizk et al. (1998) reported the syndrome of persistent Mullerian duct in an 18-month old Omani boy who presented with right sided inguinal hernia and bilateral cryptorchidism. 

Lyer and Al-Falahi (2000) (Oman Med J. 2000; 17(1):48-50) reported a 35-year old man, father of three, who presented with a right inguinal swelling for many years.

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