Importantly, dysregulation of this mechanism presents clinically as Persistent Müllerian Duct Syndrome (PMDS), in which loss of function mutations in AMH or its signaling receptor, Anti-Müllerian Hormone Receptor Type II (AMHR2), lead to persistence of Müllerian duct derivatives – uterus, fallopian tubes, cervix, and upper vagina – in males (2, 3). This evidence concerns the gene AMH and Persistent Müllerian duct syndrome.