Testis and epididymis
Persistent mullerian duct syndrome
Reviewer: Turki Al-Hussain, M.D. (see Reviewers page)
Revised: 21 April 2013, last major update September 2012
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- Rare form of male pseudohermaphroditism, mullerian 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 mullerian 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
End of Testis and epididymis > Intersex syndromes > Persistent mullerian duct syndrome
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