Cite this page: Persistent mullerian duct syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/uteruspersistentmullerian.html. Accessed February 22nd, 2017.
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