一例17-α羟化酶缺陷症患者临床和CYP17A1基因突变分析  

Clinical characteristics and analysis of CYP17A1 gene mutation of one patient with 17-α hydroxylase deficiency

作　　者：沈烨[1] 余永国[1] 杨培蓉[1] 李娟[1] 张晓洁[1] 沈永年[1] 黄晓东[1] 

机构地区：[1]上海交通大学医学院附属儿童医学中心儿内科,上海200127

出　　处：《上海交通大学学报（医学版）》2010年第10期1297-1299,1302,共4页Journal of Shanghai Jiao tong University:Medical Science

摘　　要：目的分析1例17-α羟化酶缺陷症患者的临床和CYP17A1基因突变特点。方法以1例17-α羟化酶缺陷症患者为研究对象,观察其临床表现和辅助检查结果,并对患者及其父母进行CYP17A1基因检测。结果患者就诊时血压高于正常值,第二性征发育不良;血钾低于正常值。CYP17A1基因检测显示,患者第8外显子9个碱基(TCGACTCTT)缺失,导致第487～489位氨基酸缺失,其母为该部位氨基酸杂合缺失,其父未有异常发现。结论高血压伴低血钾患者如同时存在性发育不良,应考虑17-α羟化酶缺陷症的可能,CYP17A1基因检测有助于早期诊断。Objective To analyze the clinical characteristics and mutation of CYP17A1 gene of a patient with 17-α hydroxylase deficiency. Methods One patient with 17-α hydroxylase deficiency was selected,and the clinical manifestations and auxiliary examinations were conducted.Besides,CYP17A1 gene detection was carried out among the patient and her parents. Results For the patient,blood pressure was higher;secondary sexual characters were underdeveloped;and serum potassium level was lower.CYP17A1 gene detection revealed a deletion of 9 bases（TCGACTCTT） on exon 8 and a homozygote mutation of D487-F489 deletion for the patient;her mother was a heterozygote carrier on CYP17A1,while no mutation was found in her father. Conclusion The 17-α hydroxylase deficiency should be considered in the diagnosis of hypertension and low serum potassium level combined with delayed sexual development.Detection of CYP17A1 gene may help to make early diagnosis.

关 键 词：17-α羟化酶缺陷症 先天性肾上腺增生 CYP17A1基因 

分 类 号：R586[医药卫生—内分泌] R394[医药卫生—内科学]