Background: Glucocorticoid replacement therapy in congenital adrenal hyperplasia (CAH) is challenging, especially in children, because both over- and under-dosing may have profound and long-lasting adverse effects. Clinical follow-up parameters are largely nonspecific and slow to develop. Steroid concentrations in scalp hair may be a useful monitoring tool, as it provides information on both long-term steroid precursor and glucocorticoid exposure. Aim: We aimed to evaluate scalp hair steroid precursor concentrations as a monitoring tool for treatment follow-up in children with CAH. Methods: Scalp hair 17-hydroxyprogesterone (17-OHP) and androstenedione concentrations, measured by LC-MS/MS, of children with CAH (N = 26) were correlated with concentrations in serum and saliva, and compared to scalp hair concentrations in patient controls with adrenal insufficiency (AI) (N = 12) and healthy controls (N = 293). Results: Hair cortisol concentrations were higher in children with CAH, compared to both healthy controls (P < 0·001) and patient controls (P = 0·05), and did not differ significantly between patient controls with AI and healthy controls. Concentrations of androstenedione in scalp hair were strongly correlated with concentrations in serum (ρ = 0·72, P < 0·001) and saliva (ρ = 0·82, P = 0·002). This was also seen for 17-OHP in hair with serum (ρ = 0·94, P < 0·001) and saliva (ρ = 0·69, P = 0·009). Both hair 17-OHP and androstenedione were higher in CAH patients (mean concentration 17-OHP 2·9 pg/mg; androstenedione 1·3 pg/mg), when compared to healthy controls (17-OHP 0·44 pg/mg; androstenedione 0·65 pg/mg) and when compared to patients with AI (17-OHP 0·12 pg/mg; androstenedione 0·32 pg/mg). Conclusion: This study shows that scalp hair 17-hydroxyprogesterone and androstenedione concentrations seem to be a promising parameter for treatment monitoring in patients with CAH.,
Clinical Endocrinology
Department of Clinical Chemistry

Noppe, G., de Rijke, Y., Koper, J., van Rossum, L., & van den Akker, E. (2016). Scalp hair 17-hydroxyprogesterone and androstenedione as a long-term therapy monitoring tool in congenital adrenal hyperplasia. Clinical Endocrinology, 85(4), 522–527. doi:10.1111/cen.13078