Testis and epididymis
Development
Persistent Müllerian duct syndrome
Copyright: 2002-2018, PathologyOutlines.com, Inc.
PubMed Search: Persistent mullerian duct syndrome [title]
Development
Persistent Müllerian duct syndrome
Author: Turki Al-Hussain, M.D.
Topic Completed: 1 September 2012
Minor changes: 27 March 2019
Copyright: 2002-2018, PathologyOutlines.com, Inc.
PubMed Search: Persistent mullerian duct syndrome [title]
Cite this page: Al-Hussain T. Persistent Müllerian duct syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/testispersistentmullerian.html. Accessed June 7th, 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:
- Unilateral cryptorchidism and contralateral hernia
- Bilateral cryptorchidism, uterus in pelvis, both testes embedded in broad ligament
- 15% risk of germ cell tumors, including intratubular germ cell neoplasia
Case reports
- 67 year old man with clear cell adenocarcinoma in uterus (Am J Surg Pathol 2002;26:1231)
- Choriocarcinoma with teratoma arising from intra-abdominal testis (Lancet Oncol 2004;5:51)
Differential diagnosis
- Mixed gonadal dysgenesis: no persistent Müllerian duct structures
