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

MONDO:0009916

Decreased 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

5 clinical trials for this condition and its sub-types, 0 tagged with 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency itself.

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↑ Hereditary disease (18235) ↑ 46,XY disorder of sex development (10)

Including sub-types (5) Tagged with 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (0)

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