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先天性肾上腺发育不良(AHC)是一组由调控肾上腺发育的关键基因突变引起的严重且罕见的遗传代谢性疾病，是导致原发性肾上腺皮质功能减退症的罕见遗传病因之一，目前已知的可引起AHC的致病基因共分为5种，其中最常见的是DAX-1基因。该疾病临床表现复杂多样，确诊依赖于基因检测，极易误诊误治，目前缺乏系统的诊治指南及相关流行病学研究。本文拟对AHC致病基因、发病机制、诊治以及新的研究进展进行全面阐述，旨在帮助医务工作者提高对该病的识别及诊治水平。

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 primary 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.