title: Persistent Mullerian duct syndrome: a rare cause of unilateral cryptorchidism.
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 1&frac12;-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.
authors.affiliation: Pediatrics Department, HAGAziekenhuis/Juliana Children's Hospital, The Hague, Netherlands.
authors.forename: Laura
authors.initials: L
authors.lastname: Keukens
authors.forename: Gerda
authors.initials: G
authors.lastname: Zijp
authors.forename: Dick
authors.initials: D
authors.lastname: Mul
mesh_terms: D003456:Cryptorchidism / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007223:Infant; D059785:Karyotype; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D013577:Syndrome; D013737:Testis / Q000002:abnormalities