先天性肾上腺皮质增生症行体外受精-胚胎移植一例分析及文献复习  

In vitro Fertilization and Embryo Transfer for Congenital Adrenal Hyperplasia: A Case Report and References Review

作　　者：胡玥玥 徐少元 彭海英 张昌军 HU Yue-yue;XU Shao-yuan;PENG Hai-ying;ZHANG Chang-jun(Reproductive Medicine Center,Renmin Hospital,Hubei University of Medicine,Shiyan 442000,Hubei Province,Chin;Biomedical Engineering College,Hubei University of Medicine,Shiyan 442000,Hubei Province,China;Embryonic Stem Cells of Hubei Key Laboratory,Hubei University of Medicine,Shiyan 442000,Hubei Province,China)

机构地区：[1]湖北医药学院附属人民医院生殖医学中心,湖北省十堰市442000 [2]湖北医药学院生物医学工程学院 [3]湖北医药学院胚胎干细胞研究湖北省重点实验室

出　　处：《国际生殖健康／计划生育杂志》2018年第6期463-467,共5页Journal of International Reproductive Health/Family Planning

基　　金：湖北省自然科学基金(2015CFB543);湖北医药学院自由探索基金创新团队项目(FDFR201604)

摘　　要：目的:探讨先天性肾上腺皮质增生症(CAH)基因诊断及行体外受精-胚胎移植(IVF-ET)助孕治疗的特点。方法:报告1例CAH合并原发性不孕女性患者的临床表现、染色体检查、生化和类固醇激素测定,采用直接基因测序法测定基因型,并进行糖皮质激素替代治疗及IVF-ET助孕治疗。结果:该患者基因突变检测显示CYP21A2基因复合杂合突变,确诊为21-羟化酶缺乏(21-OHD)型CAH,经IVF-ET成功妊娠,孕期予以糖皮质激素干预并进行产前诊断,孕足月分娩一健康男婴。结论:基因检测是CAH遗传学诊断和产前诊断的有效方法,CAH患者进行IVF-ET期间降低雄激素与孕激素可改善助孕治疗结局。Objective：To investigate the genetic diagnosis and IVF-ET treatment of congenital adrenal hyperplasia （CAH）. Methods：Clinical manitestations, chromosome examinations, biochemistry and steroid hormone measurements were collected in a patient with CAH who had primary infertility. Genotyping was performed using direct gene sequencing. Cortieosteroids replaneement and IVF-ET therapy were performed. Results：This patient was diagnosed as a CAH due to 21-hydroxylase deficiency （21-OHD） by a heterozygous mutation of CYP21A2 gene. After sueeesstul pregnancy with IVF-ET, the patient was given glueoeortieoid intervention and prenatal diagnosis. A healthy baby boy was delivered at term. Conclusions：Genotyping is an effective method tor CAH genetic diagnosis and prenatal diagnosis. Reducing androgen and progesterone during IVF-ET treatment of CAH patients can improve the pregnant outcome.

关 键 词：肾上腺皮质功能亢进 不育 女(雌)性 受精 体外 先天性肾上腺皮质增生症 21-羟化酶缺乏 基因诊断 

分 类 号：R714.8[医药卫生—妇产科学] R586[医药卫生—临床医学]