From the Research
Newborn screening for 21-hydroxylase deficiency began in 1977, as stated in the study published in 1997 1. The implementation of newborn screening programs for 21-hydroxylase deficiency has been a crucial step in the early detection and treatment of congenital adrenal hyperplasia (CAH).
- The first successful pilot program was implemented in Alaska in 1977, followed by New Zealand in 1979.
- By the early 1980s, several states in the U.S. had adopted screening programs, and implementation gradually expanded throughout the 1980s and 1990s. The screening involves measuring 17-hydroxyprogesterone (17-OHP) levels in dried blood spots collected from newborns, as mentioned in the study published in 2020 2. This screening is crucial because early detection of 21-hydroxylase deficiency allows for prompt treatment with glucocorticoids (typically hydrocortisone) and mineralocorticoids (fludrocortisone) when needed, preventing life-threatening salt-wasting crises in affected infants. Without treatment, severe forms of CAH can lead to adrenal crisis, electrolyte imbalances, and potentially death in the neonatal period, as highlighted in the study published in 2025 3. Today, newborn screening for 21-hydroxylase deficiency is standard practice in most developed countries, though the specific implementation varies by region.