体外受精治疗非典型21-羟化酶缺乏症患者成功妊娠1例

发布时间：2019-06-15 10:44

【摘要】：目的 21-羟化酶缺乏症(21-OHD)、17α-羟化酶缺乏症(17-OHD)为先天性肾上腺皮质增生的2种类型,因酶缺乏程度不同,临床表现不一又分为多种亚型,其中非典型21-OHD与不完全型17-OHD皆症状轻微,临床不易发现,目前此类患者妊娠率较正常者低下,如何鉴别疾病,改善临床预后并提高生育能力是临床诊治及随访的重点。方法对本院生殖中心1例罕见的非典型21-OHD合并人细胞色素P450c17A1(CYP17A1)、卵泡刺激素受体(FSHR)、黄体生成素受体(LHCGR)基因多态性病例的诊断、治疗及促排卵的过程进行回顾性分析。结果该患者经基因型检测获得明确诊断,高孕酮血症及时得到治疗,并予以个体化促排卵方案,最终获得良好妊娠结局。结论生殖科临床医生应提高对先天性肾上腺皮质增生的认识,适当利用基因型分析协助诊断,在助孕过程中灵活制定个体化促排卵方案。
[Abstract]:Objective 21-hydroxyenzyme deficiency (21-OHD) and 17 伪-hydroxyenzyme deficiency (17-OHD) are two types of congenital adrenocortical hyperplasia. Due to the degree of enzyme deficiency, the clinical manifestations are different and can be divided into many subtypes. Atypical 21-OHD and incomplete 17-OHD have mild symptoms. It is not easy to find that the pregnancy rate of these patients is lower than that of normal patients. Improving clinical prognosis and fertility is the focus of clinical diagnosis, treatment and follow-up. Methods the diagnosis, treatment and ovulatory induction of a rare case of atypical 21-OHD complicated with human P450c17A1 (CYP17A1) and follicular stimulating hormone receptor (FSHR), luteinizing hormone receptor (LHCGR) gene polymorphism in reproductive center of our hospital were analyzed retrospectively. Results the patient was diagnosed by genotyping, hyperprogesterone was treated in time, and individualized ovulatory induction regimen was given, and finally a good pregnancy outcome was obtained. Conclusion Reproductive clinicians should improve their understanding of congenital adrenocortical hyperplasia, make appropriate use of genotypic analysis to assist diagnosis, and flexibly formulate individualized ovulatory induction plan in the process of assisted pregnancy.
【作者单位】：广州医科大学附属第三医院生殖医学中心;广东普通高校生殖与遗传重点实验室;广州医科大学附属第三医院内分泌科;广州妇产科研究所;
【分类号】：R714.8

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