Persistence of Müllerian derivatives in an adult male

Abstract

Persistent Müllerian duct syndrome (PMDS) is a rare congenital abnormality that leads to male disorders of sexual development (DSD) due to the persistence of Müllerian duct derivatives in otherwise normally virilized male patients with a normal karyotype. It is usually diagnosed in the early years of life at the time of surgery for cryptorchidism or repair of an inguinal hernia. Cases of affected adult males have been reported as well. We report a rare case of PMDS in a middle-aged (47-year-old) infertile male who was referred to the endocrine clinic for the evaluation of primary infertility. A high index of suspicion needs to diagnose such conditions as early treatment is necessary to preserve fertility and to reduce the occurrence of neoplastic transformation in remnant Müllerian structures.