Uterine adenosarcoma in a boy with persistent müllerian duct syndrome: first reported case

Persistent müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism. Bilateral fallopian tubes and a uterus occur with an otherwise normal male phenotype. Testicular neoplasm in PMDS has been reported, but malignant degeneration of the remnant female genitalia has only once been reported. We present imaging, surgical specimen, and surgical pathology of the first documented case of uterine adenosarcoma of a müllerian remnant in a 14-year-old boy with PMDS presenting with gross hematuria and increasing abdominal protuberance. The child died of metastatic disease after surgical resection.