Testis and epididymis
Development
Persistent Müllerian duct syndrome



Topic Completed: 1 September 2012

Revised: 27 March 2019

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

PubMed Search: Persistent mullerian duct syndrome [title]

Turki Al-Hussain, M.D.
Page views in 2018: 212
Page views in 2019 to date: 240
Cite this page: Al-Hussain T. Persistent Müllerian duct syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testispersistentmullerian.html. Accessed August 22nd, 2019.
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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