Non tumor
Persistent müllerian duct syndrome

Author: Nat Pernick, M.D. (see Authors page)

Revised: 20 January 2017, last major update September 2011

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed search: persistent mullerian duct syndrome

Cite this page: Persistent mullerian duct syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/uteruspersistentmullerian.html. Accessed July 17th, 2018.
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