Testis and epididymis
Intersex syndromes
Persistent Müllerian duct syndrome

Author: Turki Al-Hussain, M.D. (see Authors page)

Revised: 6 April 2017, last major update September 2012

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

PubMed Search: Persistent mullerian duct syndrome [title]

Cite this page: Persistent Müllerian duct syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testispersistentmullerian.html. Accessed September 25th, 2018.
Definition / general
  • Rare form of male pseudohermaphroditism, Müllerian duct structures persist due to lack of AMH effect due to either mutation in AMH gene on chromosome 19p13.3 or abnormality of receptor gene on chromosome 12q13
  • X linked or autosomal recessive
  • Phenotypic male, normal external genitalia, unilateral or bilateral cryptorchidism, may have empty hemiscrotum, normal Wolffian duct derivatives; however also have Müllerian duct derivatives (uterus and usually 2 fallopian tubes) within an inguinal hernia
  • Two forms:
    1. Unilateral cryptorchidism and contralateral hernia
    2. Bilateral cryptorchidism, uterus in pelvis, both testes embedded in broad ligament
  • 15% risk of germ cell tumors, including intratubular germ cell neoplasia
Case reports
Differential diagnosis