CAH
Also written as: CAH — Congenital Adrenal Hyperplasia
Inherited disorders affecting adrenal steroid synthesis, commonly causing ambiguous genitalia and growth abnormalities.
Full Definition
Congenital adrenal hyperplasia encompasses a group of autosomal recessive disorders characterized by defects in enzymes required for cortisol and aldosterone synthesis. The most common form, 21-hydroxylase deficiency, accounts for approximately 95% of cases and can present as classic salt-wasting, simple virilizing, or non-classic forms. Affected individuals may present with ambiguous genitalia in newborn females, precocious puberty, accelerated growth followed by short adult stature, and potentially life-threatening salt-wasting crises. Treatment involves glucocorticoid replacement therapy and, when necessary, mineralocorticoid supplementation. Long-term management requires careful monitoring of growth, pubertal development, and metabolic parameters.
Usage
Usage note: Always spell out 'congenital adrenal hyperplasia' on first use, followed by the abbreviation in parentheses.
In Context
- "The newborn screening program detected elevated 17-hydroxyprogesterone levels, prompting evaluation for CAH." — Laboratory report
- "Patients with CAH require lifelong glucocorticoid replacement therapy with careful dose titration during stress and illness." — Treatment protocol