The value of 11-oxygenated androgens in the diagnosis and treatment of 21-hydroxylase deficiency

Background In 21-hydroxylase deficiency (21-OHD), traditional androgens like testosterone (T), androstenedione (A4), and dihydrotestosterone (DHT) are commonly used for monitoring disease. However, these biomarkers alone cannot fully explain the clinical hyperandrogenism observed in patients. Recent studies suggest that 11-oxygenated androgens also contribute to androgen-related symptoms. Objective This study aimed to assess the role of 11-oxygenated androgens in diagnosing and managing 21-OHD in children. Methods This study collected 67 patients of 21-OHD in Wuhan Children's Hospital from February 2021 to February 2022. The control group was 67 healthy children. 21-OHD children were divided into well-controlled and suboptimally-controlled groups. The clinical characteristics of 21-OHD children were recorded. The concentrations of 17-hydroxyprogesterone (17-OHP), A4, T, progesterone (PROG), 11 ketotestosterone (11KT), and 11β-hydroxyandrostenedione (11OHA4) in the two groups of children were detected. The diagnostic value of 11-oxygen androgens for 21-OHD and the follow-up value of efficacy judgment were explored. Results (1) The 11KT concentration of 21-OHD children was significantly higher than that of the healthy control group (P<0.001). (2) There was a positive correlation between 11-oxygen androgens and 17-OHP, A4, T, and PROG in 21-OHD children. (3) The concentrations of 11KT, PROG, A4, 17-OHP, and T in 21-OHD suboptimally-controlled group children were significantly higher than those in the well-controlled group (P<0.05). (4) 11KT has a high monitoring valuefor the control effect (ROC curve AU value 0.712). Conclusion 11KT is expected to become a new biomarker for the auxiliary diagnosis and monitoring the therapy of 21-OHD children.