CAH
Also written as: CAH — Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia, a group of inherited disorders affecting cortisol production screened for in newborns.
Full Definition
Congenital Adrenal Hyperplasia represents a family of autosomal recessive disorders characterized by enzyme deficiencies in the cortisol biosynthesis pathway. The most common form is 21-hydroxylase deficiency, which can lead to salt-wasting crises, virilization, and potentially life-threatening complications if undiagnosed. Newborn screening for CAH typically measures 17-hydroxyprogesterone levels, allowing for early intervention and hormone replacement therapy when necessary.
Usage
Usage note: Always use all capitals for the abbreviation CAH. Spell out on first use in patient-facing documents.
In Context
- "The newborn screening program includes CAH testing to identify infants at risk for adrenal crisis." — Screening protocol documentation
- "Elevated 17-OHP levels may indicate CAH and require immediate endocrinology consultation." — Laboratory report interpretation