Disease

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete1, 2, 3

Gene

CYP11A1

Inheritance AR and AD
Current Treatments Hydrocortisone, 9α-fludrohydrocortisone
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test serum cortisol, aldosterone and adrenocorticotropic hormone (ACTH) levels1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=cyp11a1&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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