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Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
rareCongenital 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.
- Identifiers
- MONDO:0008727 OMIM:201810Orphanet:90791
- Causal genes
- HSD3B2
- Also known as
- 3-beta HSD deficiency · 3b-hydroxysteroid dehydrogenase deficiency · adrenal hyperplasia II · CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency · HSD3B deficiency
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