17-hydroxyprogesterone (17OHP) is one of the intermediary steroid metabolites in the cortisol biosynthetic pathway. The most common genetic defect in cortisol production is deficiency of the 21-hydroxlase enzyme, which leads to congenital adrenal hyperplasia (CAH). 17OHP concentrations are raised in this form of CAH (approximately 90% of CAH cases) and is a useful marker to monitor response to therapy. Measuring 17OHP in blood spot samples is less invasive than venepuncture and allows multiple samples to be taken over a 24hr period.

Blood spot 17OHP is not a diagnostic test and is only useful in monitoring treatment.

Sample requirements and reference range