Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
MONDO:0008728The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
Also known as: 21-OHD, classic 21-OHD CAH, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 21 hydroxylase deficiency, 21-hydroxylase deficiency, CYP21 deficiency, adrenal hyperplasia 3, adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency
22 clinical trials for this condition and its sub-types, 20 tagged with Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency itself.
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Browse by category →Sub-types of Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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New cortisol timing therapy may improve life for adults with rare hormone disorder
Disease control Not yet recruitingThis study follows 100 adults with congenital adrenal hyperplasia (CAH) who switch from standard steroids to a timed-release hydrocortisone (Efmody). The goal is to see if better mimicking the body's natural cortisol rhythm improves hormone levels, metabolic health, and quality o…
Sponsor: IRCCS San Raffaele • Aim: Disease control
Last updated Jun 27, 2026 13:05 UTC
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Could a simple saliva test replace blood draws for hormone monitoring?
Knowledge-focused Not yet recruitingThis study explores whether at-home saliva samples can reliably measure key steroid hormones in people with congenital adrenal hyperplasia (CAH), a condition requiring lifelong hormone therapy. Currently, monitoring involves morning blood tests that miss daily hormone fluctuation…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jul 23, 2026 00:00 UTC