congenital adrenal hyperplasia
Also written as: CAH — congenital adrenal hyperplasia
Group of inherited disorders affecting adrenal hormone production, most commonly causing deficiency of cortisol and aldosterone with excess androgens.
Full Definition
Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders caused by deficiencies in enzymes required for cortisol and aldosterone synthesis in the adrenal cortex. The most common form, accounting for 90-95% of cases, results from 21-hydroxylase deficiency and can present in classic or non-classic forms. Classic CAH manifests with cortisol deficiency, mineralocorticoid deficiency (in salt-wasting forms), and androgen excess leading to virilization. In females, this results in ambiguous genitalia at birth, while males may appear normal initially but can develop salt-wasting crises. Non-classic CAH presents later with signs of androgen excess such as early puberty, hirsutism, or fertility issues. Treatment involves glucocorticoid replacement, mineralocorticoid replacement when indicated, and careful monitoring of growth and development.
Usage
Usage note: Specify classic vs. non-classic and salt-wasting vs. simple virilizing forms when known. Commonly abbreviated as CAH.
In Context
- "Newborn screening detected elevated 17-hydroxyprogesterone levels suggestive of congenital adrenal hyperplasia requiring immediate endocrine consultation." — Pediatric emergency department note
- "The infant with salt-wasting congenital adrenal hyperplasia required careful monitoring of electrolytes and stress dose steroid coverage during illness." — Endocrinology follow-up visit