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

Definition

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-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 — per MONDO

Also identified as

• DOID 0112248 per MONDO
• MESH C537805 per MONDO
• MESH C564868 per MONDO
• NCIT C120203 per MONDO
• OMIM 264300 per MONDO
• Orphanet 752 per MONDO
• SCTID 50658006 per MONDO
• UMLS C0268296 per MONDO

Affected Organs