Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report

BACKGROUND 17α-Hydroxylase deficiency(17-OHD)is a rare form of congenital adrenal hyperplasia,characterized by hypertension,hypokalemia,and gonadal dysplasia.However,due to the lack of a comprehensive understanding of this disease,it is prone to misdiagnosis and missed diagnosis,and there is no complete cure.CASE SUMMARY We report a female patient with 17-OHD.The patient was admitted to the Department of Neurology of our hospital due to limb weakness.During treatment,it was found that the patient’s condition was difficult to correct except for hypokalemia,and her blood pressure was difficult to control with various antihypertensive drugs.She was then transferred to our department for further treatment.On physical examination,the patient's gonadal development was found to be abnormal,and chromosome analysis demonstrated karyotype 46,XY.Considering the possibility of 17-OHD,the cytochrome P450 family 17 subfamily A member 1(CYP17A1)test was performed to confirm the diagnosis.CONCLUSION The clinical manifestations of 17-OHD are complex.Hormone determination,imaging examination,chromosome determination and CYP17A1 gene test are helpful for early diagnosis.

携带CYP3A5*1对移植患儿他克莫司给药剂量、血药浓度、血药浓度/剂量值影响的Meta分析

目的系统评价携带细胞色素P450家族3亚家族A成员5(CYP3A5)*1对移植患儿他克莫司给药剂量、血药浓度和血药浓度/给药剂量(C/D)值的影响。方法计算机检索PubMed、Scopus、ISI Web of Science、ProQuest、中国知网、维普资讯中文期刊服务平台、万方数据知识服务平台,纳入携带CYP3A5*1(CYP3A5*1/*1或CYP3A5*1/*3)对移植患儿他克莫司给药剂量、血药浓度、C/D值影响的文献。评价文献质量及提取资料后,采用RevMan 5.3软件进行Meta分析。结果共纳入13篇文献进行Meta分析。Meta分析结果显示,在移植后第1、2、3、6、12个月时,CYP3A5*1携带者和非携带者的他克莫司给药剂量差异有统计学意义(P<0.05),其中携带者的他克莫司给药剂量更大;在移植后第1、2周和第1、2、6个月,CYP3A5*1携带者的他克莫司血药浓度低于CYP3A5*1非携带者(P<0.05);在移植后第1、2周和第1、2、3、4、5、6、7、8、9、10、11、12个月,CYP3A5*1携带者的他克莫司C/D值低于CYP3A5*1非携带者(P<0.05)。结论在移植患儿中,CYP3A5*1携带者和非携带者移植后的他克莫司给药剂量、血药浓度和C/D值存在明显差异,其中CYP3A5*1携带者所需的他克莫司剂量更大。在给药前进行CYP3A基因多态性检测有助于预测个体所需剂量。