Objective To report three patients with persistent Müllerian duct syndrome (PMDS) associated with a unilateral testicular tumour.
Patients and methods Three adults with PMDS and an associated testicular malignancy were evaluated using physical examination, imaging, measurement of tumour markers, surgical exploration and chromosome analysis.
Results The position of the uterus and fallopian tubes differed in all patients; one was in the scrotal sac, another in the abdomen and the third in the left inguinal canal. Two of the patients were cousins and their pedigree showed that they were probably in a sex-limited group. Both also had transverse testicular ectopia; fertility was documented in the younger patient. In all cases, the karyotype was proved to be 46, XY.
Conclusion We recommend that the diagnosis of PMDS is made radiologically and that the detection of Müllerian inhibiting factor is mandatory. As malignancy does not occur in the retained Müllerian ducts, hysterectomy should not be performed at abdominal exploration, although orchidectomy should be, because orchidopexy offers only limited protection against future malignancy if performed after 2 years of age. It is not necessary to perform testicular biopsy to detect tumour in the scrotal testis in this syndrome, because an impalpable tumour can be localized by ultrasonography.