细胞色素P450氧化还原酶缺陷症患者经体外受精-胚胎移植成功妊娠分娩1例报道及文献复习  

Successful pregnancy and delivery of one patient with cytochrom P450 oxidoreductase deficiency after in vitro fertilization and embryo transfer:a case report and literature review

作　　者：刘娜娜[1] 甄秀梅[1] 李蓉[1] 王海宁[2] Liu Nana;Zhen Xiumei;Li Rong;Wang Haining(Reproductive Center of Peking University Third Hospital,Beijing 100191,China;Endocrine Department of Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院生殖医学中心,北京100191 [2]北京大学第三医院内分泌科,北京100191

出　　处：《中华生殖与避孕杂志》2023年第9期949-952,共4页Chinese Journal of Reproduction and Contraception

基　　金：国家重点研发项目(2021YFC27006001)。

摘　　要：目的探讨细胞色素P450氧化还原酶缺陷症(cytochrome P450 oxidoreductase deficiency,PORD)合并不孕症的早期发现、鉴别诊断及有效治疗。方法回顾性分析1例PORD患者的临床诊治资料。结果该患者疾病特点包括原发性闭经、不孕、生殖系统轻度畸形、双侧卵巢多发黄素化囊肿、高孕酮血症,经内分泌科检验指标和基因筛查确诊PORD,给予口服地塞米松,进行体外受精-胚胎移植后成功妊娠,顺利分娩一健康儿。结论PORD属于罕见的常染色体隐性遗传病,存在类固醇激素代谢障碍,疾病特征多样,合并不孕时易被误诊,需要及时鉴别诊断,给予恰当的地塞米松治疗后,可以经过辅助生殖技术获得成功妊娠。Objective To explore the timely detection,differential diagnosis and effective treatment of cytochrome P450 oxidoreductase deficiency(PORD)with infertility.Methods A retrospective analysis was conducted on the clinical diagnosis and treatment data of one PORD patient.Results The disease characteristics of this patient included primary amenorrhea,infertility,mild malformation of the reproductive system,multiple luteinized cysts in the bilateral ovaries,and hyperprogesteronemia.PORD was diagnosed by endocrine testing indicators and gene screening.Oral dexamethasone was given,and in vitro fertilization and embryo transfer(IVF-ET)was carried out.After successful pregnancy,a healthy infant was successfully delivered.Conclusion PORD is a rare autosome recessive genetic disease,which has steroid hormone metabolism disorder and various disease characteristics.It is easy to be misdiagnosed when combined with infertility.It needs timely differential diagnosis.After appropriate dexamethasone treatment,pregnancy can be successfully achieved through assisted reproductive technology.

关 键 词：受精 体外 胚胎移植 先天性肾上腺增生 细胞色素P450氧化还原酶 

分 类 号：R714.8[医药卫生—妇产科学]