Testicular malignancy in persistent Mullerian duct syndrome: Experience from an apex cancer center with review of literature

Urol Oncol. 2023 May;41(5):258.e1-258.e6. doi: 10.1016/j.urolonc.2023.02.008. Epub 2023 Apr 3.


Objectives: Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sexual differentiation resulting from aberrations in the Mullerian inhibiting factor (MIF) pathway, with consequent failure of regression of fetal Mullerian duct. The concomitant association of undescended testis increases the likelihood of developing testicular tumors in these patients. Due to its rarity, clinic-pathologic and treatment outcome data on testicular cancer in PMDS is sparse. We present our institutional experience and review published literature on testicular cancer in PMDS.

Material and methods: We retrospectively queried our institutional testicular cancer database for all patients with a diagnosis of testicular cancer and PMDS, between January 1980 and January 2022. Additionally, a Medline/PubMed search was performed for English language articles published during the same time period. Data on pertinent clinical, radiologic, and pathologic disease characteristics were abstracted, in addition to treatment received and outcomes.

Results: Of 637 patients treated for testicular tumors during the specified time period in our institution, 4 patients had a concomitant diagnosis of PMDS. Testicular tumor was pathologically confirmed as seminoma in 3, 1 had mixed germ cell tumor. All patients in our series presented with stage 2B or higher disease and required chemotherapy, either in the neoadjuvant or adjuvant setting, in addition to surgery. With a mean follow up of 67 months, all patients were disease free. Medline/PubMed search retrieved 44 articles (49 patients) of testicular tumors associated with PMDS, with majority (59%) presenting with a large abdominal mass. Only 5 cases (10%) had a preceding history of appropriately managed cryptorchidism.

Conclusions: Testicular cancer in PMDS usually presents in adults with advanced stage disease resulting from neglected or inadequate management of cryptorchidism. Appropriate management of cryptorchidism in childhood is likely to decrease malignant degeneration, if not, enable early-stage diagnosis.

Keywords: Mullerian duct; Persistent Mullerian duct syndrome; Seminoma; Testicular cancer.

Publication types

  • Review

MeSH terms

  • Adult
  • Cryptorchidism* / complications
  • Cryptorchidism* / pathology
  • Cryptorchidism* / surgery
  • Humans
  • Male
  • Retrospective Studies
  • Testicular Neoplasms* / complications
  • Testicular Neoplasms* / diagnosis
  • Testicular Neoplasms* / therapy

Supplementary concepts

  • Testicular Germ Cell Tumor
  • Persistent Mullerian duct syndrome