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

Orpha code: 752OMIM code: 264300

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
17-beta-hydroxysteroid dehydrogenase 3 deficiency
Niedobór 17-ketoreduktazy
Niedobór 17-ketosteroidoreduktazy
Niedobór dehydrogenazy 17-beta-hydroksysteroidowej typu 3
Pseudohermafrodytyzm męski spowodowany niedoborem dehydrogenazy 17-beta-hydroksysteroidowej typu 3
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Kod ORPHA
752
Kod OMIM
264300
Kod ICD10
E29.1
Kod ICD11
LD2A.3

No additional description.

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