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

Disease Export to PDF
Name:
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Description:
17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.
ORPHAcode:
752
Synonyms:
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
HSD17B3
Created:
13 May 2019 - 01:02
Changed:
01 May 2022 - 06:55