先天性肾上腺皮质增生症(CAH)是内分泌系统最常见的常染色体隐性遗传性疾病之一,主要由类固醇合成过程中关键酶缺陷所致。肾上腺皮质肿瘤(ACTs)的发病机制可能与抑癌基因TP53、Menin及原癌基因Ras等的突变有关。近年来的研究发现,CAH时ACTs发生率增加,两者之间可能存在某些分子遗传学联系。 Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive hereditary diseases of the endocrine system, mainly caused by the key enzyme defects in steroid synthesis. The pathogenesis of adrenocortical tumors (ACTs) may be related to the mutations of tumor suppressor genes TP53, Menin and protooncogene Ras. In recent years, the study found that the incidence of ACTs increased CAH, there may be some molecular genetic relationship between the two.