上海交通大学学报（医学版）

›› 2010, Vol. 30 ›› Issue (10): 1297-.doi: 10.3969/j.issn.1674-8115.2010.10.027

• 短篇论著 • 上一篇    下一篇

一例17-α羟化酶缺陷症患者临床和CYP17A1基因突变分析

沈 烨, 余永国, 杨培蓉, 李 娟, 张晓洁, 沈永年, 黄晓东   

  1. 上海交通大学 医学院附属儿童医学中心儿内科, 上海 200127
  • 出版日期:2010-10-25 发布日期:2010-10-27
  • 通讯作者: 黄晓东, 电子信箱: jcperkesh@126.com。
  • 作者简介:沈 烨（1981—）, 女, 住院医师, 硕士；电子信箱: shenjiaye1003@163.com。

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

SHEN Ye, YU Yong-guo, YANG Pei-rong, LI Juan, ZHANG Xiao-jie, SHEN Yong-nian|HUANG Xiao-dong   

  1. Department of Paediatrics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
  • Online:2010-10-25 Published:2010-10-27

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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。

关键词: 17-α羟化酶缺陷症, 先天性肾上腺增生, CYP17A1基因

Abstract:

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.

Key words: 17-&alpha, hydroxylase deficiency, congenital adrenal hyperplasia, CYP17A1 gene