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多囊卵巢综合征患者中非经典型21-羟化酶基因缺陷症的基因检测筛查
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多囊卵巢综合征患者中非经典型21-羟化酶基因缺陷症的基因检测筛查
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多囊卵巢综合征患者中非经典型21-羟化酶基因缺陷症的基因检测筛查
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Journal Article
多囊卵巢综合征患者中非经典型21-羟化酶基因缺陷症的基因检测筛查
2016
Overview
目的通过基因检测法筛查按照鹿特丹标准诊断的多囊卵巢综合征（PCOS）患者中的非经典型21-羟化酶基因缺陷症（NC-21OHD）。方法按照鹿特丹标准纳入2014-2015年于第四军医大学唐都医院内分泌科就诊的98例PCOS患者,依据改良Ferriman-Gallway评分（简称m F-G评分）结果分为3组,m F-G评分0~2分为A组,3~5分为B组,≥6分为C组;另纳入30名同期在该院体检中心体检的同龄健康女性作为对照组。收集所有受试者外周血,提取DNA,设计5对特异性引物扩增CYP21A2基因,扩增产物送上海生工公司进行测序。对基因检测结果异常者,进一步测定其上午8点血皮质醇和促肾上腺皮质激素（ACTH）水平。结果 30名健康对照者无一例检测到基因缺陷,而在98例PCOS患者中检测到5例基因异常者,基因型分别为V281L/920-921ins T（P1）、V281L/I230M（P2）、V281L/Normal（P3、P4、P5）,均为杂合突变。C组21-羟化酶基因缺陷发生率为28.6%,B组为3.3%。P1基因型属于已被鉴定的NC-21OHD基因型,基因型与临床表型相符;P3、P4、P5为携带者,而在P2中,由于I230M国内外文献未见报道,因此还不能确定P2属于NC-21OHD患者还是携带者。皮质醇和ACTH的检测结果表明,仅P1的皮质醇位于正常低限、ACTH位于正常高限,其余患者均正常。结论尽管PCOS与NC-21OHD临床表现相似,但是为两种完全不同的疾病,在发病机制和治疗方法上差异显著,因此有必要在已诊断的PCOS患者,尤其是m F-G评分≥6分的多毛患者中通过基因检测筛查NC-21OHD,明确区分两种疾病,以免误诊。
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