Case of the Month: September 2012, Page 4

Answer 3.B. 15%

Discussion Points:

  • Persistent Mullerian Duct Syndrome is a form of internal male pseudohermaphroditism
  • Patients are both karyotypically and phenotypically male
  • PMDS is caused by autosomal recessive inheritance of a genetic mutation that codes for anti-Mullerian Hormone (AMH) or the AMH receptor type II
  • AMH is secreted by Sertoli cells in the testes after the 7th week of gestation and is responsible for regression of the Mullerian ducts
  • Two anatomic variants of PMDS exist, 85% have herniated uterus and fallopian tubes into the inguinal canal with contralateral cryptorchidism, 15% have the uterus fixated in the pelvis with bilateral cryptorchidism
  • Infertility is common
  • The rate of testicular malignancy in PMDS is similar to males with cryptorchidism
  • Most clinicians recommend removal of persistent mullerian structures. Surgical techniques have been described of preserving the vas deferens. Orchiopexy and repair of inguinal hernia should be performed


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