Familial male hermaphroditism with ambiguous external genitalia

Five families (16 cases) of familial male hermaphrodites with ambiguous external genitalia are reported and compared with 15 families (44 cases) collected from the literature. Male hermaphroditism with ambiguous external genitalia occurs not only as a sporadic disorder but also in families as a disease inherited through an apparently normal female. The familial disorder is characterized by breast development in the majority of cases in contrast to the sporadic cases of male hermaphrodites with ambiguous external genitalia. "Familial male hermaphroditism with ambiguous external eenitalia" is suggested as a suitable designation for this syndrome. The etiological factors and pathogenesis of this syndrome are not well established.