1. Diseases
  2. 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Disease Export to PDF
Name:
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
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.
ORPHAcode:
752
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
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
HSD17B3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14