Congenital adrenal hyperplasia(AHC)is a group of severe and rare genetic metabolic diseases caused by mutations in key genes that regulate adrenal gland development.It is a rare cause of pri-mary adrenal insufficiency.Currently,there are five known pathogenic genes that can cause AHC,and the most common of which is DAX-1 gene.The clinical manifestations of this disease are complex and diverse,and diagnosis relies on genetic testing,which is prone to misdiagnosis and mistreatment.There is a lack of systematic diagnosis and treatment guidelines and related epidemiological research.This article intends to comprehensively describe different pathogenic genes,pathogenesis,diagnosis and treatment,as well as new research progress of AHC,aiming to assist medical professionals in enhancing their recognition and diagnosis of this disease.
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