两例细胞色素P450氧化还原酶缺陷症的临床特点和分子诊断  

Clinical characteristics and molecular diagnosis in 2 cases of P450 oxidoreductase deficiency

作　　者：王文萃[1,2,3] 叶蕾 杨祖威[1,2,3] 贾慧英 张婕 赵萸 王卫庆 宁光[1,2,3] 孙首悦 Wang Wencui;Ye Lei;Yang Zuwei;Jia Huiying;Zhang Jie;Zhao Yu;Wang Weiqing;Ning Guang;Sun Shouyue(Department of Endocrine,Ruijin Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200025,China;Shanghai Institute of Endocrine and Metabolic Diseases,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌科 [2]上海市内分泌代谢病研究所 [3]中国医科大学附属第一医院内分泌与代谢病科,沈阳110000 [4]上海交通大学医学院附属瑞金医院北院内分泌代谢科

出　　处：《中华内分泌代谢杂志》2018年第11期926-930,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：上海市卫生和计划生育委员会科研课题(201540209);上海交通大学医学院附属瑞金医院内分泌科,上海市内分泌代谢病研究所,上海市内分泌代谢病临床医学中心.

摘　　要：目的 分析2例细胞色素氧化还原酶缺陷症患者的临床和基因突变特点.方法 收集瑞金医院2例细胞色素氧化还原酶缺陷症患者的临床资料,进行POR基因测序,结合国内外病例报道进行回顾分析.结果 患者1:46,XX,社会性别女,16岁,出生时肛门闭锁,阴蒂肥大,至青春期后月经不规则;患者2:46,XX,社会性别女,32岁,月经不规则,不孕不育,2例患者均无骨骼畸形表现.基因检测示患者1携带POR基因纯合错义突变(R457H);患者2携带POR基因杂合错义突变(R223X/Y607C),其中突变位点R223X和Y607C均为国内首次报道.结论 细胞色素氧化还原酶缺陷症为POR基因突变引起,临床表现多样,主要表现为类固醇激素合成障碍伴或不伴类Antley-Bixler综合征,其明确诊断应依赖于类固醇激素检查和POR基因检测.Objective To analyze clinical characteristics and gene mutation of two patients diagnosed with P450 oxidoreductase deficiency (PORD).Methods Clinical data of 2 patients with PORD was collected from Ruijin hospital.POR gene mutation was analyzed by PCR-Sanger sequencing.A retrospective analysis of literatures concerning PORD was performed.Results Patient 1,female,16 years old,with 46,XX karyotype,presented with anorectal anomalies,clitoral hypertrophy at birth and irregular menstruation ;Patient 2,female,32 years old,with 46,XX karyotype,showed irregular menstruation and infertility,both without obvious skeletal deformity.Genetic test of POR gene mutation revealed that patient 1 carried a homozygous missense mutation (R457H)and patient 2 carried a heterozygous mutation (R223X/Y607C).The two mutations (R223X and Y607C)are reported for the first time in China.Conclusion P450 oxidoreductase deficiency which caused by mutations in POR gene has a variety of clinical manifestations,including abnormal steroid hormone synthesis with or without Antley-Bixler syndrome.The affirmative diagnosis should rely on steroid hormone measurement and POR gene analysis.

关 键 词：细胞色素氧化还原酶缺陷症 先天性肾上腺皮质增生症 POR基因 

分 类 号：R586[医药卫生—内分泌]