Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism

BMJ Case Rep. 2012 Sep 12:2012:bcr0220125722. doi: 10.1136/bcr.02.2012.5722.

Abstract

Persistent Mullerian duct syndrome (PMDS) is a rare syndrome and sometimes the cause of a common problem in paediatric and surgical practice, namely undescended testes. PMDS is a recessive disease in which there is a defect in anti-Mullerian hormone secretion or receptor activity resulting in persistence of Mullerian structures such as a uterus or fallopian tubes with otherwise normal virilisation. Here the authors present a case of a 1½-year-old boy who was referred to their hospital because of unilateral cryptorchidism. During laparoscopic surgery, two gonads were present joined together by a uterus-like structure. Additional investigations showed a normal male karyotype and biopsies of the gonads revealed infantile testis parenchyma making the diagnosis PMDS likely.

Publication types

  • Case Reports

MeSH terms

  • Cryptorchidism / diagnosis
  • Cryptorchidism / etiology*
  • Humans
  • Infant
  • Karyotype
  • Male
  • Mullerian Ducts / abnormalities*
  • Syndrome
  • Testis / abnormalities