先天性肾上腺皮质增生症与肾上腺皮质肿瘤的分子遗传学研究进展

摘要

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 an autosomal recessive disorder of corticosteroid biosynthesis primarily caused by a deficiency of steroid synthesis key enzyme. Molecular analysis has demonstrated deletions and point mutations within one of the CYP21, CYP11B1, CYP17A1, StAR gene impairing steroid synthesis key enzyme function. Recently, CAH has been shown to be associated with the formation of adrenocortical tumors (ACTs), especially asymptomatic adrenocortical tumors. It is assumed that CAH and ACTs may have some common molecular genetic background.