MOLECULAR-BIOLOGY OF THE PERSISTENT MULLE RIAN DUCT SYNDROME

The persistent Mullerian duct syndrome, characterized by the presence of uterus and tubes in otherwise normally masculinized 46,XY males, is a familial autosomal recessive disorder due to defects of synthesis o r action of anti-Mullerian hormone. We have performed molecular studie s in a fetal of 38 families and we have identified the basis of the co ndition, namely 16 anti-Mullerian hormone and 16 anti-Mullerian hormon e receptor mutations, in 32 families.