46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Name: |
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
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Description: |
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.
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ORPHAcode: |
752
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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
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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