Liu Bing-li, Qiao Jie, Chen Xia, Liang Jun, Zuo Chun-lin, Gu Yan-yun, Han Bing, Gong Jing, Ru Ying, Lu Ying-li, Wu Wan-ling, Chen Ming-dao, Song Huai-dong
Molecular Medical Center, Shanghai Institute of Endocrinology, the Affiliated Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):282-7. doi: 10.3760/cma.j.issn.1003-9406.2009.03.010.
To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17a-hydroxylase/17,20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese.
Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province.
Seven patients (5 of them were 46,XX; 2 were 46,XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cortisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls.
The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD.There might be certain frequency of heterozygotes for D487_F489del in Chinese population.
研究来自5个家庭的7例17α-羟化酶/17,20裂解酶缺乏症（17OHD）患者的临床和遗传特征以及中国人群中的CYP17A1突变情况。
收集5个患有17OHD家庭的临床特征和实验室数据。对患者进行PCR直接测序以筛查CYP17A1基因的突变。对来自山东省的288名健康个体进行聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和测序，以筛查CYP17A1基因的突变。
7例患者（其中5例为46,XX；2例为46,XY）具有性幼稚、高血压和低钾血症的典型临床表现。激素谱显示血浆皮质醇和性激素降低，血促肾上腺皮质激素（ACTH）升高。在患者中鉴定出第6外显子的TAC329AA和H373L以及第8外显子的D487_F489del。在288名健康对照中鉴定出1例D487_F489del杂合子。
CYP17A1基因的TAC329AA和D487_F489del是中国17OHD患者中最常见的突变。中国人群中D487_F489del杂合子可能存在一定频率。
