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

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。

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

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.