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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 analyze the relationship between medical history, clinical manifestations, laboratory tests and gene mutation in 3 patients with 21-hydroxylase deficiency (21-OHD). Methods 21-OHD was diagnosed according to the patient’s medical history, clinical manifestations, laboratory tests and imaging data. The CYP21A2 gene was analyzed to find the pathogenic mutation sites. Results All 3 patients were diagnosed as 21-OHD. Gene sequencing found that CYP21A2 gene mutations exist the same gene (I2g), but history, clinical manifestations and hormone test results suggest that three patients were loss-of-salt, simple masculine, non-classical. Conclusions The same CYP21A2 gene mutation (I2g) may exist in different phenotypes of 21-OHD. The mechanism of different phenotypes of the same gene deserves further study.