46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
MONDO:0009916Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
Also known as: 17 Beta HSD3 deficiency, 17 beta HSD3 deficiency, 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, Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 17 alpha KSR deficiency
13 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
Disease
(618)
Hereditary disease
(172)
Endocrine system disorder
(61)
Human disease
(14)
Reproductive system disorder
(13)
Developmental defect during embryogenesis
(7)
Disorder of sexual differentiation
(5)
46,XY disorder of sex development
(2)
Disease of genetic or genomic mechanism
(2)
Gonadal disorder
(2)