• The 17-hydroxyprogesterone (17-OHP) test is routinely ordered as part of newborn screening to detect congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. CAH is a group of inherited disorders caused by specific gene mutations and associated with cortisol-related enzyme deficiencies. About 90% of CAH cases are caused by a mutation in the 21-hydroxylase gene (also called P450c1 or CYP21A2) and may be detected due to the accumulation of 17-OHP in the blood.
  • The 17-OHP test may be used to screen for CAH in older children or adults before symptoms appear or to confirm a CAH diagnosis in people with symptoms.