国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2018, Vol. 37 ›› Issue (6): 463-467.

• 论著 • 上一篇    下一篇

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

胡玥玥，徐少元，彭海英，张昌军   

  1. 442000  湖北省十堰市，湖北医药学院附属人民医院生殖医学中心（胡玥玥，徐少元，彭海英）；湖北医药学院生物医学工程学院（彭海英，张昌军）；湖北医药学院胚胎干细胞研究湖北省重点实验室（张昌军）
  • 收稿日期:2018-09-10 修回日期:2018-10-01 出版日期:2018-11-15 发布日期:2018-11-15
  • 通讯作者: 张昌军，E-mail：542690700@qq.com E-mail:542690700@qq.com
  • 基金资助:
    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）

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

HU Yue-yue，XU Shao-yuan，PENG Hai-ying，ZHANG Chang-jun   

  1. Reproductive Medicine Center，Renmin Hospital，Hubei University of Medicine，Shiyan 442000，Hubei Province，China（HU Yue-yue，XU Shao-yuan，PENG Hai-ying）；Biomedical Engineering College，Hubei University of Medicine，Shiyan 442000，Hubei Province，China（PENG Hai-ying，ZHANG Chang-jun）；Embryonic Stem Cells of Hubei Key Laboratory，Hubei University of Medicine，Shiyan 442000，Hubei Province，China（ZHANG Chang-jun）
  • Received:2018-09-10 Revised:2018-10-01 Published:2018-11-15 Online:2018-11-15
  • Contact: ZHANG Chang-jun，E-mail：542690700@qq.com E-mail:542690700@qq.com

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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。

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

Abstract: Objective：To investigate the genetic diagnosis and IVF-ET treatment of congenital adrenal hyperplasia (CAH). Methods：Clinical manifestations, 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. Corticosteroids replancement 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 successful pregnancy with IVF-ET, the patient was given glucocorticoid intervention and prenatal diagnosis. A healthy baby boy was delivered at term. Conclusions：Genotyping is an effective method for CAH genetic diagnosis and prenatal diagnosis. Reducing androgen and progesterone during IVF-ET treatment of CAH patients can improve the pregnant outcome.

Key words: Adrenocortical hyperfunction, Infertility, female, Fertilization in vitro, Congenital adrenal hyperplasia, 21-hydroxylase deficiency, Genotyping