先天性肾上腺增生
21羟化酶
医学遗传学
假基因
产前诊断
医学
CYP17A1型
新生儿筛查
遗传学
生物
儿科
内科学
基因
胎儿
怀孕
基因组
作者
Yu Sun,Lingqian Wu,Lei Ye,Wenjuan Qiu,Yongguo Yu,Xuefan Gu
出处
期刊:PubMed
日期:2023-07-10
卷期号:40 (7): 769-780
标识
DOI:10.3760/cma.j.cn511374-20230330-00178
摘要
21 hydroxylase deficiency (21-OHD), the most common form of congenital adrenal hyperplasia, is caused by defects in CYP21A2 gene, which encodes the cytochrome P450 oxidase (P450C21) involved in glucocorticoid and mineralocorticoid synthesis. The diagnosis of 21-OHD is based on the comprehensive evaluation of clinical manifestation, biochemical alteration and molecular genetics results. Due to the complex structure of CYP21A2, special techniques are required to perform delicate analysis to avoid the interference of its pseudogene. Recently, the state-of-the-art diagnostic methods were applied to the clinic gradually, including the steroid hormone profiling and third generation sequencing. To standardize the laboratory diagnosis of 21-OHD, this consensus was drafted on the basis of the extensive knowledge, the updated progress and the published consensuses and guidelines worldwide by expert discussion organized by Rare Diseases Group of Pediatric Branch of Chinese Medical Association, Medical Genetics Branch of Chinese Medical Doctor Association, Birth Defect Prevention and Molecular Genetics Branch of China Maternal and Child Health Association. and Molecular Diagnosis Branch of Shanghai Medical Association.
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