汕头市先天性肾上腺皮质增生症筛查结果分析  

Analysis of Screening Results of Congenital Adrenal Hyperplasia in Shantou

作　　者：林健辉[1] 张蔚起[1] 姜尚林[1] LIN Jianhui;ZHANG Weiqi;JIANG Shanglin(Shantou Maternal and Child Health Hospital,Guangdong Province,Shantou 515041,China)

机构地区：[1]广东省汕头市妇幼保健院,广东汕头515041

出　　处：《中国医学创新》2023年第19期86-90,共5页Medical Innovation of China

基　　金：汕头市科技计划医疗卫生类别项目(210401106490305)。

摘　　要：目的:探究2021年4月—2022年5月汕头市新生儿先天性肾上腺皮质增生症筛选结果,论证17α-羟孕酮在先天性肾上腺皮质增生症中的筛选切值。方法:选择2021年4月—2022年5月于汕头市地区60余家助产机构及汕头市妇幼保健院产科接受先天性肾上腺皮质增生症筛查的69251例新生儿为研究对象,对其17α-羟孕酮水平进行检测,对初筛疑似阳性患儿实施召回复查,对召回复查的患儿充分结合其临床辅助检测结果,采用串联质谱法对阳性召回患儿进行二级筛查,二级筛查阳性者行21-羟化CYP21A2基因筛查。结果:受检69251例新生儿平均17α-羟孕酮水平为(3.59±5.14)nmol/L。初筛阳性率为0.54%,351例初筛阳性新生儿接受二级串联质谱法检测,合计9例诊断异常,异常率2.56%。9例二级串联质谱法筛检异常新生儿开展21-羟化CYP21A2基因检测,提示1例新生儿存在基因异常;建议设定足月儿17α-羟孕酮切值为15.0 nmol/L,早产儿17α-羟孕酮切值为24.3 nmol/L。结论:17α-羟孕酮水平有助于先天性肾上腺皮质增生症的早期筛查,辅以21-羟化CYP21A2基因检测有助于明确先天性肾上腺皮质增生症的诊断。但机械参考17α-羟孕酮说明书设定阳性切值不利于医疗资源利用,建议设定足月儿17α-羟孕酮切值为15.0 nmol/L,早产儿17α-羟孕酮切值为24.3 nmol/L,以减少假阳性率和召回率。Objective:To explore the screening results of neonatal congenital adrenal hyperplasia in Shantou city from April 2021 to May 2022,and demonstrate the screening cutoff value of 17α-hydroxyprogesterone in congenital adrenal hyperplasia.Method:A total of 69,251 newborns who were screened for congenital adrenal hyperplasia in more than 60 midwifery institutions and Obstetrics Department of Shantou Maternal and Child Health Hospital from April 2021 to May 2022 were selected as the study subjects.Their 17α-hydroxyprogesterone levels were tested,and the suspected positive children were called for a response check.The recalled children were fully combined with their clinical auxiliary test results,and the positive recalled children were screened for secondary screening by tandem mass spectrometry,Individuals who were positive for secondary screening would undergo 21 hydroxylated CYP21A2 gene screening.Result:A total of 69,251 newborns were tested,with an average level of 17α-hydroxyprogesterone was(3.59±5.14)nmol/L.The positive rate of initial screening was 0.54%,and 351 newborns with initial screening positive were tested by secondary tandem mass spectrometry.A total of 9 cases were diagnosed as abnormal,with an abnormal rate of 2.56%.21-hydroxylated CYP21A2 genetic testing was carried out in 9 abnormal newborns screened by secondary tandem mass spectrometry,indicating that one newborn had gene abnormality.It is suggested to set the cut-off value of 17α-hydroxyprogesterone at 15.0 nmol/L for full-term infants and 24.3 nmol/L for preterm infants.Conclusion:The level of 17α-hydroxyprogesterone is helpful for the early screening of congenital adrenal hyperplasia,and the detection of 21-hydroxylated CYP21A2 gene is helpful for the diagnosis of congenital adrenal hyperplasia.However,mechanically referencing the 17α-hydroxyprogesterone manual to set a positive cutoff value is not conducive to the utilization of medical resources.It is recommended to set a 17αhydroxyprogesterone cutoff value of 15.0 nmol/L for term inf

关 键 词：先天性肾上腺皮质增生症 筛查 17α-羟孕酮 CYP21A2基因检测 

分 类 号：R722.1[医药卫生—儿科]