Persistent mullerian duct syndrome
Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 15 March 2012, last major update September 2011
Copyright: (c) 2002-2012, PathologyOutlines.com, Inc.
● Rare form of male pseudohermaphroditism caused by lack of regression of Mullerian ducts in phenotypically and genotypically (46XY) males
● Mullerian ducts normally regress in male fetus at 8 weeks due to anti-Mullerian hormone (AMH) produced by fetal Sertoli cells, which binds to anti-Mullerian hormone type II receptor, causing disappearance of Mullerian 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
Hormonal influences on gonadal development
● 11 month old boy with transverse testicular ectopia (Br J Radiol 2008;81:e176)
● 5 year old boy with unexpected findings at herniotomy (Afr J Paediatr Surg 2010;7:191)
● 67 year old man with clear cell adenocarcinoma of remnant uterus (Am J Surg Pathol 2002;26:1231)
Mullerian structures present at laparotomy
Uterus with leiomyoma and adnexal testis
With transverse testicular ectopia
End of Uterus > Non tumor > Persistent mullerian duct syndrome
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