Persistent Müllerian Duct Syndrome in Male Identical Twins

Abstract

Male pseudohermaphroditism, characterized by the persistence of Müllerian duct structures with otherwise normal differentiation, is a rare disorder that appears to be caused by an abnormality in the activity of Müllerian inhibiting factor.1 Patients with this syndrome are phenotypically normal males who usually present with inguinal hernia and cryptorchidism. This condition has also been called hernia uteri inguinalis, persistent Müllerian duct syndrome, and male internal pseudohermaphroditism. It has recently been suggested that hysterectomy may not be indicated in most of these patients because of possible injury to the vas deferens.2 The condition appears to be genetic, since familial incidence occurs. Brook et al.3 reported four affected pairs of brothers in unrelated families.