目的 了解广西地区先天性肾上腺皮质增生症（CAH）的发病率与基因检测结果。方法 选 择 2015⁃2021 年期间在广西新筛中心管辖范围内的 168 家助产医院出生的 391 714 例新生儿为研究对象， 采用时间分辨荧光法检测 17 羟孕酮（17⁃OHP），对可疑阳性患儿召回复查，对二次召回阳性患儿结合相关 临床辅助检测，采用 Sanger 测序联合 MLPA 技术对患儿 21⁃羟化酶基因 CYP21A2 基因进行检测，确定基因 型。结果 391 714例新生儿中，CAH初筛阳性1 769例，确诊21例，确诊年龄为2 ~ 27 d，发病率为1/18 653； 确诊患儿均能发现相关基因变异，且 CYP21A2 基因变异多样化，c.293⁃13A/C > G 是本地区的热点变异，发 生率为 33%。结论 对 21⁃羟化酶基因的检测，可检测出 CYP21A2 基因点突变和大片段缺失；结合 17⁃OHP 升高、临床表现从而有效诊断CAH 患儿，可防止威胁生命的肾上腺皮质危象的发生。

Objective To investigate the incidence and genetic testing results of congenital adrenal hyper⁃ plasia（CAH）in Guangxi，China. Methods A total of 391，714 newborns born in 168 midwifery hospitals in the region from 2015 to 2021 were selected as subjects. The time⁃resolved fluorescence method was used to detect 17⁃hydroxyprogesterone（17⁃OHP）. The suspected positive children were recalled for retesting，which was done together with relevant clinical auxiliary tests. Sanger sequencing combined with multiplex ligation ⁃dependent probe amplification（MLPA）technology was used to detect the CYP21A2 genes in the children and determine the genotypes. Results Among the 391，714 newborns，1，769 were initially positive for CAH，and 21 were diagnosed between 2 and 27 days old，with an incidence of 1/18653. At the same time，gene mutations were found in all diagnosed children，and CYP21A2 gene variation was diversified，among which c. 293⁃13A/C > G was the frequent mutation， with an incidence of 33%. Conclusions By 21⁃hydroxylase genic testing，the point mutation and large fragment deletion of CYP21A2 gene can be detected. Combined with the elevation of 17⁃OHP and clinical manifestations，CAH in children can be effective diagnosed，thereby preventing the occurrence of life⁃threatening adrenal cortical crisis.