Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Synonyms: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency?
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Advocacy Organizations
Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
Adrenal Insufficiency United
Helping find resources and navigating the health system
CARES Foundation (Congenital Adrenal hyperplasia Research, Education & Support Foundation )
CARES Foundation leads in the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research.
Child And Youth Care
To ensure every rare disease patient has access to quality and affordable care, treatment services in order to reduce morbidity and mortality.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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