The AMH-H506Q variant has previously also been identified in a male with Persistant Müllerian duct Syndrome (PMDS) (Belville et al., 2004), and similarly, it was shown that AMH-506Q was detected in the cell lysate but not in the supernatant of transfected cells (Belville et al., 2004). Here, AMH is linked to persistent Mullerian duct syndrome.