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.
46,XY DSD caused by a rare mutation of the 17ß-hydroxysteroid dehydrogenase type 3 gene
FAIENZA, Maria Felicia;LEGGIO, Samuele;TODARELLO, Orlando;CAVALLO, Luciano
2007-01-01
Abstract
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.File in questo prodotto:
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