A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

doi:10.1530/eje.0.1390330

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Article

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

European journal of endocrinology - 1 Sept 1998

Bilbao J R, Loridan L, Audí L, Gonzalo E, Castaño L

Abstract excerpt

OBJECTIVE: Deficit of the testosterone converting enzyme 17-beta-hydroxysteroid dehydrogenase (17beta-HSD) has been shown to be responsible for male pseudohermaphroditism (MPH). We analysed the gene encoding 17beta-HSD type 3 (17beta-HSD3) in a patient with MPH. METHODS: We studied a 46, XY new-b...

Topics

17-Hydroxysteroid Dehydrogenases
DNA
Disorders of Sex Development
Electrophoresis, Agar Gel
Exons
Humans
Infant, Newborn
Male
Mutation
Phenotype
Polymerase Chain Reaction
RNA, Messenger
Testis

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