What can cause a “borderline” screening result with borderline elevated 17-hydroxyprogesterone levels?
• CAH due to 21-hydroxylase deficiency sometimes may be associated with a borderline result. In many of these cases, the level will rise between the first and second screen. • Premature infants also commonly have elevated 17-hydroxyprogesterone levels. There are different reference ranges on the newborn screen for premature infants based on birth weight. • Infants who are heterozygotes and have one mutation in 21-hydroxylase also may have elevated 17-hydroxyprogesterone levels but do not have CAH and are clinically unaffected.
