Prostatic adenocarcinoma in a patient with persistent Müllerian duct syndrome

The embryonal male sexual differentiation is driven by testosterone, and Anti-Müllerian hormone (AMH). AMH is responsible for regression of Müllerian ducts in a genetically male fetus. Mutations inactivating AMH or its receptors are responsible for persistent Müllerian duct syndrome (PMDS) in virilized 46, XY males. PMDS is a rare genetic disorder affecting males, with less than 300 cases described in literature. The syndrome is usually recognized early in life with patients present with bilateral undescended testicles, and often decreased testosterone production by Leydig cells later in life. The role of testosterone in the development and progression of prostate cancer is well established, and men with low circulating free testosterone are expected to have a lower risk of developing prostate cancer. Indeed, 2 cases of prostate cancer in patients with PMDS have previously been described. Herein, we are reporting the third of prostate cancer in patient with PMDS.