摘要目的 评价血清类固醇浓度测定在先天性肾上腺皮质增生症21羟化酶缺乏(CAH21OHD)患儿治疗监测中的意义.方法 19例接受规范治疗的经典型CAH 21OHD患儿,年龄(3.67±1.54)岁,随访间隔0.33 ～1.0年,观察(1.47±0.7)年.将每例患儿相隔两个观察点作为1个观察例次,根据骨龄进展、线性生长速度、临床男性化体征等综合判断,分为控制良好组和控制欠佳组.每个观察点均于早8点患儿第一次服用糖皮质激素前空腹采血检测血清各种类固醇[去氢表雄酮硫酸盐、孕酮、17羟孕酮(17-OHP)、雄烯二酮(△4-A)、睾酮、游离睾酮、雌酮和雌二醇]的浓度.比较两组的血清各种类固醇浓度,对差异有显著意义的类固醇指标,使用受试者工作特性(ROC)曲线进行分析,以定义诊断“控制欠佳”的切割值.结果 (1)在各种类固醇指标中,控制欠佳组的血清△4-A、17-OHP浓度[5.95(2.23 ～ 11.2)nmol/L、13.85 (6.06 ～ 20) μg/L]高于控制良好组[1.05( 1.05 ～9.89) nmol/L、3.67(0.42～21.1) μg/L](t=2.19、2.17,P均＜0.05).(2)ROC曲线分析结果显示,血清△4-A、17-OHP浓度、血清△4-A联合17-OHP浓度的曲线下面积(95％ CI)分别为0.76(0.62,0.90),0.75(0.62,0.88)和0.69(0.54,0.84).血清△4-A浓度为3.9 nmoL/L时,诊断“控制欠佳”的灵敏度和特异度分别为0.78和0.75;血清17-OHP浓度为7.1g/L时,诊断“控制欠佳”的灵敏度和特异度分别为0.67和0.71.结论 血清△4-A或(和)17-OHP浓度作为CAH 21OHD糖皮质激素替代治疗的监测指标有一定价值.判断控制欠佳的诊断效率由高到低依次为血清△4-A浓度、血清17-OHP浓度、血清△4-A联合17-OHP浓度.

abstractsObjective To assess the utility of serum steroids measurement in monitoring the treatment of children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Method Nineteen Patients with CAH 21OHD aged (3.67 ± 1.54) years treated with hydrocortisone and fluorocortisone replacement were followed up at an intervals of 0.33 - 1.0 years over a period of ( 1.47 ± 0.7 ) years. At each visit,roentgenograms of the hands and wrists were taken,fasting peripheral blood were collected to test serum dehydroepiandrosterone sulfate, progesterone, 17-hydroxyprogesterone ( 17-OHP ),androstenedione ( △4-A ),testosterone,free testosterone,estrone,and estradiol concentrations at 8AM in the morning before the first dose of glucocorticoid.Then the patients were classified as being in " Good Control" or in " Poor Control" based on clinical criteria including signs of androgen excess,growth velocity and bone age increment at each interval. Comparisons were carried out between the serum steroid concentrations of the two groups. The receiver operating characteristic (ROC) curves were used to determine the cut-off values for diagnosing "Poor Control".Result Both of serum △4-A and 17-OHP concentrations were higher in " Poor Control" group than those in " Good Control" group [5.95(2.23-11.2) nmoL/Lversus 1.05(1.05-9.89) nmoL/L,t =2.19;13.85(6.06-20) μg/Lversus 3.67(0.42- 21.1) μg/L,t =2.17; P ＜ 0.05,respectively]. The ROC curves for serum △4-Aconcentrations,serum 17-OHP concentrations,serum △4-A in combination with 17-OHP concentrations were constructed with areas under the ROC curves (95％ CI) of 0.76(0.62,0.90),0.75(0.62,0.88),0.69 (0.54,0.84),P ＜ 0.05,respectively.Serum △4-A of 3.9 nmol/L had 0.78 of sensitivity and 0.75 of specificity in diagnosing "Poor Control".Serum 17-OHP of 7.1 μg/L has 0.67 of sensitivity and 0.71 of specificity in diagnosing "Poor Control".Conclusion Each of serum 17-OHP or/and △4-A concentration was of significance in diagnosing " Poor Control" during the glucocorticoid replacement treatment of CAH 21OHD,with the diagnostic efficacy being serun △4-A concentration,serum 17-OHP concentration and serum △4-A in combination with 17-OHP concentration in descending order..Serum △4-A and 17-OHP concentrations may be used as the biochemical indicators to monitor the therapy of CAH 21OHD.