SUMMARY
We descrihe a case of 46,XY disorder of
sex development in a girl with marked
virilizatíon at puberty. The l7-beta-hydroxysteroid dehydrogenase rype 3
gene analysis showed a homozygous
mutation, Arg80Trp. The molecular
analysis represents a useful tool for the
diagnosis of male pseudohermaphroditism in the prcsence of suggestive biochemical
features