Endocrine DisordersNewborn ScreeningRUSP
Congenital Adrenal Hyperplasia
CAH
Classic CAH due to 21-hydroxylase deficiency impairs cortisol synthesis, leading to adrenal insufficiency and, in salt-wasting forms, life-threatening electrolyte crisis. Excess androgen production can cause virilization of females. Newborn screening with confirmatory testing enables glucocorticoid and mineralocorticoid therapy before shock or ambiguous genitalia complications dominate.
- Prevalence
- 1 in 15,000
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.