LC-MS/MS Improves Screening Towards 21-Hydroxylase Deficiency

The study compared the accuracy of immunoassays to LC-MS/MS in measuring serum 17-hydroxyprogesterone (17OHP) and androgens in 39 women with hyperandrogenism and 29 controls. It found that immunoassays reported significantly higher median 17OHP levels than LC-MS/MS in both groups, leading to unnecessary additional diagnostic procedures in up to 85% of patients with immunoassays, compared to none with LC-MS/MS. The study also found that concentrations of total testosterone, androstendione, and DHEA-S were significantly higher when measured by immunoassays. LC-MS/MS showed 100% sensitivity, specificity, and test accuracy, with no false positives or negatives. The final diagnosis revealed 61.5% with PCOS, 31% with idiopathic hyperandrogenism, 5% with CAH, and 2.5% with ACC. The study concluded that LC-MS/MS is a more reliable diagnostic tool for measuring serum 17OHP and androgens, suggesting its adoption in commercial laboratories is imminent.