Uterus
Nontumor
Persistent Müllerian duct syndrome



Topic Completed: 1 September 2011

Revised: 21 February 2019

Copyright: 2002-2018, PathologyOutlines.com, Inc.

PubMed search: persistent Müllerian duct syndrome

Nat Pernick, M.D.
Page views in 2018: 390
Page views in 2019 to date: 272
Cite this page: Pernick N. Persistent Müllerian duct syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/uteruspersistentmullerian.html. Accessed June 24th, 2019.
Definition / general
  • Rare form of male pseudohermaphroditism caused by lack of regression of Müllerian ducts in phenotypically and genotypically (46XY) males
  • Müllerian ducts normally regress in male fetus at 8 weeks due to anti-Müllerian hormone (AMH) produced by fetal Sertoli cells, which binds to anti-Müllerian hormone type II receptor, causing disappearance of Müllerian ducts at 10 weeks of fetal age; mutations of either AMH or AMHRII genes (Hum Reprod Update 2005;11:351, Hum Mol Genet 2009;18:3002) block duct regression
  • < 200 cases described in the English literature
  • Usually associated with unilateral cryptorchidism and contralateral hernia
  • Rarely is bilateral cryptorchidism, pelvic uterus and 2 testes embedded in broad ligament
  • Associated with testicular germ cell tumors
Diagrams / tables

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Hormonal influences on
gonadal development

Case reports
Clinical images

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Müllerian structures present at laparotomy

Uterus with leiomyoma and adnexal testis

Gross images

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Uterus with leiomyoma and adnexal testis

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