新生儿先天性肾上腺皮质增生症筛查中17羟孕酮切值的建立

目的回顾性分析2010年1月-2010年9月，我院新生儿先天性肾上腺皮质增生症（CAH）的筛查数据，初步探讨不同性别、出生孕周及体重的新生儿17-羟孕酮（17-OHP）分布情况，并结合临床确诊病例，设定合理的筛查切值。方法采用时间分辨荧光免疫分析方法检测新生儿末稍血17-OHP浓度，采用百分位数法确定切值。结果新生儿筛查的17-OHP检测水平呈偏态分布；不同性别、体重及孕周的17-OHP亦有显著性差异；根据稳健回归统计发现孕周与170HP的相关性最好，所以在设定切值时分设早产儿和足月儿即可。早产新生儿（〈37周117-OHP的99％百分位数值为66．1nmol／L；正常孕周（≥37周）新生儿17-OHP的99％百分位数值为26．6nmol／L，与早产新生儿组差异有显著性（P〈0．01）。本文跟踪统计了从2010年1月到2011年8月间筛查的88061例活产新生儿，一共确诊了17例CAH，其中失盐型2例，发病率为1／44030；单纯男化型1例，发病率为1／88061；非典型14例，发病率为1／6290。结论中山地区的CAH发病率明显低于全国水平。用统一的17-OHP切值30nmol／L对新生儿CAH筛查结果有一定影响，建议早产儿筛查切值为60nmol／L，以减少假阳性率和召回率。

Study on establishment of 17-OHP cut-off point in screening of congenital adrenal hyperplasia

Objective To make a retrospective analysis on the hospital congenital adrenal hy- perplasia （CAH） screening data from January 2010 to September 2010, a preliminary study of different gender, gestational age and birth weight of newborns 17-hydroxyprogesterone （17-OHP） distribution, and clinical diagnosis of cases, and set a reasonable screening cut value. Methods We used DELFIA method to detect neonatal peripheral blood 17-OHP concentrations, and used the percentile method to determine the cut value. Results Newborn screening of （17-OHP levels were detected skewed distribution .There were significant differences between different gender, weight and gestational age. According to robust regression statistics gestational age has the best correlation with 17-OHP. So just set cut values grouped premature neonates and normal gestational age newborn. Premature neonates （ 〈 37W） 17-OHP 99% percentile value 66.1 umol/L. Normal gestational age （〉I 37W） newborn 17-OHP 99% percentile values was 26.6 nmol/L. Followed by tracking statistics from January 2010 to August 2011, 17 cases of CAH diagnosed among the 88,061 cases of live births screened newborn, classic type 2 cases, the incidence rate of 1/44030; simple of man in 1 case, the incidence rate of 1/88 061; atypical in 14 cases, the incidence rate of 1/6290, Conclusion Zhongshan areas of CAH incidence was significantly lower than the national level. Using a uniform 17-OHP cut value 30 nmol/L for newborn CAH has a certain influence to screening results, it is recommended screening cut-off point of premature neonates should be 60 nmol/L, in order to reduce the false positive rate and recall rate.