Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, China.
Front Endocrinol (Lausanne). 2021 Apr 23;12:624507. doi: 10.3389/fendo.2021.624507. eCollection 2021.
Congenital adrenal hyperplasia (CAH) is a group of congenital genetic diseases caused by defective steroidogenesis. Our study aims to systematically analyze the screening results for CAH in Chinese newborns.
Studies were searched from PubMed, Web of Science, Cochrane library and some Chinese databases up to September, 2020. Meta-analysis was performed after quality assessment and data extraction.
After a review of 2 694 articles, we included 41 studies enrolling 7 853 756 newborns. In our study, we found that the incidence of CAH in China was 0.43‱ [95% confidence intervals(CI), (0.39‱, 0.48‱)], or 1/23 024 [95%CI, (1/25 757,1/20 815)]. 27 studies were included for analysis of the screening positive rate, which gave a rate of 0.66% [95%CI, (0.54%, 0.78%)]. As for the recall rate of positive cases, 17 studies were included and showed that the recall rate reached 86.17% [95%CI, (82.70%, 89.64%)]. Among the CAH patients, the ratio of males to females was 1.92:1 (119:62), and the ratio of salt wasting (SW) to simple virilization (SV) type was 3.25:1 (104:32). The average 17-hydroxyprogesterone (17-OHP) value of CAH was 393.40 ± 291.85 nmol/L (Range 33-1 300 nmol/L); there was no significant difference between male and female patients (437.17 ± 297.27 nmol/L v.s. 322.25 ± 293.04 nmol/L, =0.16), but a significant difference was found between SW and SV patients (483.29 ± 330.07 nmol/L v.s. 73.80 ± 7.83nmol/L, =0.04).
We systematically analyzed the current situation of neonatal CAH screening in China, which will deepen our understanding for future CAH screening and early diagnosis.
先天性肾上腺皮质增生症（CAH）是一组由类固醇生成缺陷引起的先天性遗传疾病。本研究旨在系统分析中国新生儿 CAH 的筛查结果。
检索PubMed、Web of Science、Cochrane 图书馆和部分中文数据库，检索时限截至 2020 年 9 月。经过质量评估和数据提取后进行 Meta 分析。
在对 2694 篇文章进行综述后，我们纳入了 41 项研究，共纳入了 7853756 例新生儿。本研究发现，中国 CAH 的发病率为 0.43‱（95%置信区间（CI）：0.39‱0.48‱），即 1/23024（95%CI：1/257571/20815）。27 项研究用于分析筛查阳性率，阳性率为 0.66%（95%CI：0.54%0.78%）。17 项研究用于分析阳性病例的召回率，召回率达 86.17%（95%CI：82.70%89.64%）。CAH 患者中，男女比例为 1.92:1（119:62），失盐型（SW）与单纯男性化型（SV）的比例为 3.25:1（104:32）。CAH 患者的平均 17-羟孕酮（17-OHP）值为 393.40±291.85nmol/L（范围 33~1300nmol/L）；男、女患者之间差异无统计学意义（437.17±297.27nmol/L v.s. 322.25±293.04nmol/L，=0.16），但 SW 型与 SV 型患者之间差异有统计学意义（483.29±330.07nmol/L v.s. 73.80±7.83nmol/L，=0.04）。
本研究系统分析了中国新生儿 CAH 筛查的现状，将为未来 CAH 筛查和早期诊断提供更深入的认识。
