46,XY DSD caused by a rare mutation of the 17-β-hydroxysteroid dehydrogenase type 3 gene

Maria Felicia Faienza, L. Giordani, A. Acquafredda, S. Leggio, O. Todarello, S. Trabucco, M. D'Aniello, C. Zecchino, M. Delvecchio, L. Cavallo

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a case of 46,XY disorder of sex development in a girl with marked virilization at puberty. The 17-β-hydroxysteroid dehydrogenase type 3 gene analysis showed a homozygous mutation, Arg80Trp. The molecular analysis represents a useful tool for the diagnosis of male pseudohermaphroditism in the presence of suggestive biochemical features.

Original languageEnglish
Pages (from-to)13-16
Number of pages4
JournalItalian Journal of Pediatrics
Volume33
Issue number1
Publication statusPublished - Feb 2007

Keywords

  • 17-β-hydroxysteroid dehydrogenase type 3
  • Ambiguous genitalia
  • Intersex disorders
  • Mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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