Congenital adrenal hyperplasia
21-hydroxylase deficiency in adults, from classic salt-wasting disease to non-classic CAH that mimics PCOS, with 17-hydroxyprogesterone testing, glucocorticoid and fludrocortisone treatment, adult complications such as testicular adrenal rest tumours, fertility, pregnancy and crinecerfont.
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- CAH is a group of autosomal recessive defects in cortisol synthesis. 21-hydroxylase deficiency (CYP21A2) causes about 95%.
- Low cortisol lifts ACTH, the adrenals enlarge, and precursors spill into androgens. 17-hydroxyprogesterone (17-OHP) is the marker.
- Physicians meet two groups: adults with classic CAH who need lifelong replacement and monitoring, and women with non-classic CAH (NCAH) presenting with hirsutism that looks like PCOS.
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Sources
- Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guidelineEndocrine Society (Speiser et al., J Clin Endocrinol Metab 2018;103:4043-88), 2018
- Phase 3 trial of crinecerfont in adult congenital adrenal hyperplasia (CAHtalyst)Auchus et al., N Engl J Med 2024;391:504-14, 2024
- Newborn bloodspot screening: what is screened in the programAU/NZAustralian Government Department of Health, Disability and Ageing
- Endocrinology (Therapeutic Guidelines)AU/NZTherapeutic Guidelines Ltd
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Turnstile bot check on sign-in and signed-out feedback