Testis & epididymis
Development
Persistent Müllerian duct


Topic Completed: 1 September 2012

Minor changes: 3 July 2020

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

PubMed Search: Persistent mullerian duct syndrome [title]

Turki Al-Hussain, M.D.
Page views in 2019: 423
Page views in 2020 to date: 210
Cite this page: Al-Hussain T. Persistent Müllerian duct. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testispersistentmullerian.html. Accessed July 4th, 2020.
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
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