Disease

Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency1, 2

Gene

HSD3B2

Inheritance AR
Current Treatments Hydrocortisone, 9α-fludrohydrocortisone, oral supplements of sodium chloride
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test serum cortisol, aldosterone and adrenocorticotropic hormone (ACTH) levels3
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Congenital+Adrenal+Hyperplasia&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
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