Synonyms: 17-beta-hydroxysteroid dehydrogenase 3 deficiency | 17-ketoreductase deficiency | 17-ketosteroidreductase deficiency | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
A rare difference of sex development characterized by 17-beta hydroxysteroid dehydrogenase 3 deficiency that affects individuals with a 46,XY karyotype leading to underandrogenization of the genitalia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency?
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