相同CYP21A2基因突变(I2g)致3种不同表型的21-羟化酶缺陷症

Same mutation of CYP21A2 gene(I2g) causing three different phenotypes in patients with 21-hydroxylase deficiency

目的分析3例21-羟化酶缺陷症(21-OHD)患者的病史、临床表现、实验室检查和基因突变的关系。方法通过患者病史、临床表现、实验室检查及影像学资料诊断21-OHD,通过对CYP21A2基因进行分析,寻找致病突变位点。结果 3名患者均确诊为21-OHD。基因测序发现CYP21A2基因均存在相同致病基因突变(I2g),但病史、临床表现及激素测定结果提示3例患者分别为失盐型、单纯男性化型、非经典型。结论相同CYP21A2基因突变(I2g)可存在于不同表型的21-OHD中,相同基因不同表型的机制值得进一步研究。

Objective To investigate the relationship between medical history,clinical manifestations,laboratory findings and genetic characteristics of three cases of 21-hydroxylase deficiency（ 21-OHD）. Methods The Medical history,clinical manifestations and laboratory data were obtained from three patients with different types of 21-OHD,and the promoter and coding areas of gene were directly sequenced. Results These patients were diagnosed as 21-OHD. Gene sequencing revealed that they had the same mutation（ I2g） in CYP21A2,while their medical history,laboratory examinations and clinical manifestations confirmed that they were salt-wasting,simple-virilizing and noclassical,respectively. Conclusion Same mutation of CYP21A2 gene（ I2g） can cause different phenotypes in 21-hydroxylase deficiency with other unknown reasons. The mechanism of the same mutation of CYP21A2 gene（ I2g） causing three different phenotypes needs be further investigated.