CAH
Pronunciation: C-A-H
Also written as: CAH — congenital adrenal hyperplasia
Congenital adrenal hyperplasia, a group of genetic disorders affecting steroid hormone production, screened via 17-hydroxyprogesterone measurement.
Full Definition
Congenital adrenal hyperplasia (CAH) encompasses several autosomal recessive disorders affecting adrenal steroid synthesis, with 21-hydroxylase deficiency representing 95% of cases. Affected infants may experience salt-wasting crises, ambiguous genitalia, and adrenal insufficiency. Newborn screening measures 17-hydroxyprogesterone (17-OHP) levels, though premature infants often require repeat testing due to physiologically elevated levels that normalize with maturation.
Usage
Usage note: Specify 17-OHP as the screening analyte when discussing methodology.
In Context
- "CAH screening showed markedly elevated 17-OHP requiring immediate endocrine consultation." — Pediatric emergency note
- "Premature infants often require repeat CAH screening due to gestational age effects." — Screening protocol