Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Definition

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

Also known as 3-beta HSD deficiency, CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency — per MONDO

Also identified as

• MESH C538236 per MONDO
• NCIT C131088 per MONDO
• OMIM 201810 per MONDO
• Orphanet 90791 per MONDO
• SCTID 54470008 per MONDO
• UMLS C0342471 per MONDO

Affected Organs