关键词: 21 -羟化酶缺乏； 青春期； 监测指标

Abstract: Objective To explore the hormone levels in adolescent children with 21 -hydroxylase deficiency ( 21 -OHD), and to screen the high specific indicators. Methods The clinical data of 21 -OHD in adolescent children were collected. According to the degree of masculinity and bone age, the children were divided into the well-controlled group and the poorly-controlled group, and the differences of body mass index (BMI), hydrocortisone dose and steroid hormone levels between the two groups were compared. The receiver operating characteristic (ROC) curve was used to define the cutoff value for poor control. Results The mean age of puberty development in 43 included children with 21 -OHD was 8 . 1 ± 2 . 1 years ( 3 . 3 ~ 12 . 9 years). Among them, there were 14 boys and 16 girls with simple virilizing (SV) type. Salt-wasting (SW) type was found in 8 boys and 5 girls. In both men and women, the levels of 17 -hydroxyprogesterone ( 17 -OHP), adrenocorticotropic hormone (ACTH), androstenedione (AD) and AD/testosterone (T) in the poorly-controlled group were higher than those in the well-controlled group; the T level of poorly-controlled group was higher than that of well-controlled group, and the differences were statistically significant (P< 0 . 05 ). ROC curve analysis indicated that 17 -OHP combined with AD/T had the highest diagnostic value (AUC, 0 . 907 for boy and 0 . 814 for girl); when the cut-off value of 17 -OHP and AD/T for boy was 14 . 88 ng/mL and 4 . 17 , the sensitivity and specificity were 0 . 824 and 0 . 889 respectively; when the cut-off value of 17 -OHP and AD/T for girl was 27 . 23 ng/mL and 4 . 63 , the sensitivity and specificity were 0 . 848 and 0 . 646 respectively. Conclusions In adolescence, 17 -OHP combined with AD/T has certain value in monitoring of replacement therapy, but the steroid hormone level and AD/T ratio vary in patients with different types and genders, so individualized adjustment of the treatment plan is required.

Key words: 21 -hydroxylase deficiency; adolescence; monitoring index