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目的分析1例不典型表型的21-羟化酶缺陷症(210HD)患者的诊断过程和分子遗传学资料。方法根据患者临床资料、激素测定及影像学资料确诊,PCR产物直接测序方法检测CYP21基因突变。结果患者为老年女性,以高血压就诊;基础激素测定示孕酮、睾酮、雄烯二酮、空腹17-羟孕酮等高于正常水平;双侧肾上腺结节样增生;快速ACTH兴奋试验显示,激发后17-羟孕酮水平为68.3μg/L。基因测序发现,CYP21基因编码区C1187T(R356W)杂合突变,合并启动子区域C-125T,G-112A,T-109C三个位点相联杂合突变,该复合杂合突变类型尚未见文献报道。结论CYP21基因编码区C1187T杂合突变合并启动子区域C-125T,G-112A,T-109C三位点相联杂合突变可能与不典型表现的21OHD的发生有关。
Objective To analyze the diagnostic process and molecular genetics data of one case of 21-hydroxylase deficiency (210HD) with atypical phenotype. Methods According to the clinical data of patients, hormone determination and imaging data diagnosis, direct sequencing of PCR products to detect CYP21 gene mutations. Results The patients were elderly women and were treated with hypertension. The basal hormone test showed that the levels of progesterone, testosterone, androstenedione, fasting 17-hydroxyprogesterone were higher than normal; bilateral adrenal nodular hyperplasia; , And the 17-hydroxyprogesterone level after challenge was 68.3 μg / L. Gene sequencing found that CYP21 gene coding region C1187T (R356W) heterozygous mutation, the combined promoter region C-125T, G-112A, T-109C three sites associated heterozygous mutation, the compound heterozygous mutation has not been found in the literature Reported. Conclusion The heterozygous mutation of C-125T, G-112A and T-109C at the C1187T mutation site in CYP21 coding region may be related to the atypical 21OHD.