21-羟化酶缺乏症青春期患儿治疗期指标监测

Monitoring of indicators in the treatment of 21-hydroxylase deficiency in adolescent children

目的监测21羟化酶缺乏(21-OHD)青春期患儿激素水平,筛选特异性较高的指标。方法回顾分析21-OHD青春期患儿的临床资料。根据雄性化程度及骨龄将患儿分为控制较佳组和控制不佳组,对比两组间体质指数(BMI)、氢化可的松药物剂量及类固醇激素水平的差异;使用受试者工作特性(ROC)曲线定义控制不佳的截断值。结果共纳入21-OHD患儿43例,青春发育平均年龄(8.1±2.1)岁(3.3~12.9岁)。其中,单纯男性化型(SV)男性14例、女性16例;失盐型(SW)男性8例、女性5例。不论男性还是女性,控制不佳组的17-羟孕酮(17-OHP)、促肾上腺皮质激素(ACTH)、雄烯二酮(AD)、AD/睾酮(T)水平均高于控制较佳组;女性控制不佳组的T水平也高于控制较佳组,差异有统计学意义(P<0.05)。ROC曲线分析提示,17-OHP联合AD/T的诊断价值最高(AUC,男性为0.907、女性为0.814);男性17-OHP截断值为14.88 ng/mL、AD/T为4.17时,灵敏度为0.824,特异度为0.889;女性17-OHP截断值27.23 ng/mL、AD/T为4.63时,灵敏度为0.848,特异度为0.646。结论在青春期,17-OHP联合AD/T作为替代治疗的监测具有一定价值,但不同分型及不同性别患者的类固醇激素水平及AD/T比值不同,因此需个体化调整治疗方案。

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.