Measuring steroids in hair opens up possibilities to identify congenital adrenal hyperplasia in developing countries

Objective Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow-up. The aim of this study is to evaluate steroid measurement in hair as a diagnostic tool to identify and monitor CAH in these patients. Design A method was developed to measure steroids in hair, the stability of steroids in hair was assessed, and the concentration range in healthy volunteers was determined. Hair samples of patients, before and after starting therapy, were transported at ambient temperature to The Netherlands for analysis. Patients Twenty-two Indonesian CAH patients and 84 healthy volunteers participated. Measurements Cortisol, 17-hydroxyprogesterone (17OHP), androstenedione, and testosterone in hair were measured by liquid chromatography with tandem mass spectrometry. Results Steroids in hair could be measured and remained stable (<4.9% deviation) for at least 3 weeks at 4 degrees C and 30 degrees C. In each of the untreated patients, hair concentrations of 17OHP (9.43-1135 pmol/g), androstenedione (36.1-432 pmol/g), and testosterone (2.85-69.2 pmol/g) were all above the upper limit of the corresponding range in healthy volunteers; 5.5 pmol/g, 13 pmol/g, and 1.8 pmol/g, respectively. After starting glucocorticoid treatment, the steroid concentrations in the hair of CAH patients decreased significantly for androstenedione (73%) and testosterone (59%) after 6 months. Conclusions CAH could be confirmed in Indonesian patients based on the concentration of 17OHP, androstenedione, and testosterone in hair, and a treatment effect was observed. These findings open up opportunities to diagnose and/or monitor CAH in developing countries with a simple noninvasive technique.

Automated summary

This study developed a method to measure steroids in hair and found that the concentration of 17OHP, androstenedione, and testosterone in hair can be used to confirm CAH in patients and monitor treatment effectiveness. These findings provide opportunities for using a simple noninvasive technique to diagnose and monitor CAH in developing countries.