How is congenital adrenal hyperplasia diagnosed?
Patients with various forms of congenital adrenal hyperplasia are diagnosed by their clinical features and plasma and urine steroid profiles. In general, the corticotropin stimulation test results in marked elevation of precursor steroids proximal to the deficient enzyme.
Neonatal screening for 21-hydroxylase deficiency is available across the United States and in many countries worldwide.
There is currently no screening program for the hypertensive forms of congenital adrenal hyperplasia because of the low incidence of these disorders.