Abstract
BackgroundCongenital 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.MethodsStudies 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.ResultsAfter 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, P=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, P=0.04).ConclusionWe systematically analyzed the current situation of neonatal CAH screening in China, which will deepen our understanding for future CAH screening and early diagnosis.
Highlights
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited diseases caused by defects of essential enzymes in the synthesis of steroid hormones
The collection of specimens abided by the “Technical Specifications for Blood Collection for Neonatal Disease Screening” or the guidelines of the corresponding region; the dissociation-enhanced lanthanide fluorescence immunoassay (DELFIA) or enzyme-linked immunosorbent assay (ELISA) method was used to detect the 17-OHP concentration of dried blood spot specimens; the main indictors were incidence rate, the positive rate and recall rate of screening, etc
We performed a subgroup analysis of regional incidences, among them, the incidence in Zhejiang, Guangdong, Hubei and Shaanxi province was lower than the national incidence; but in other regions, it was higher than the national incidence
Summary
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited diseases caused by defects of essential enzymes in the synthesis of steroid hormones. About 90-95% of CAH cases are caused by deficiency of steroid 21-hydroxylase (21-OHD), characterized by elevated 17hydroxyprogesterone (17-OHP) and reduced glucocorticoid levels. The current screening for CAH is still dominated by 21-OHD, some rare types such as 11b-hydroxylase and 3bhydroxysteroid dehydrogenase deficiency may be found. In China, such a screening program started in the early 1990s, and to date, many screening centers have obtained regional incidence data. National newborn screening is the only way of obtaining precise incidence data of CAH in China and promote its early diagnosis, but currently there are still many difficulties in carrying out such a national screening program. 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
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