Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives (MDs), the uterus and/or fallopian tubes, in otherwise normally virilized boys [1]. The gene discussed is AMH; the disease is persistent Mullerian duct syndrome.