非经典型21-羟化酶缺陷症与多囊卵巢综合征的鉴别诊断分析  

Differential diagnosis of nonclassical 21-hydroxylase deficiency and polycystic ovary syndrome

作　　者：王胜男[1] 夏艳洁 许莉军 余勤[1] 栗夏莲[1] 孙良阁[1] 秦贵军[1] 张会娟[1] Wang Shengnan;Xia Yanjie;Xu Lijun;Yu Qin;Li Xialian;Sun Liangge;Qin Guijun;Zhang Huijuan(Department of Endocrinology and Metabolism,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Center of Prenatal Diagnosis,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院内分泌与代谢病科,450052 [2]郑州大学第一附属医院产前诊断中心,450052

出　　处：《中华内分泌代谢杂志》2020年第4期288-293,共6页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的探索非经典型21-羟化酶缺陷症(NC21-OHD)和多囊卵巢综合征(PCOS)的鉴别诊断方法。方法对比31例NC21-OHD女性患者和29例PCOS患者的临床资料。结果NC21-OHD组肾上腺皮质增生发生率显著高于PCOS组(P<0.05),卵巢多囊样变(PCO)发生率和身高低于PCOS组(P<0.05)。NC21-OHD组促肾上腺皮质激素(ACTH)、17-羟孕酮(17-OHP)、雄烯二酮(AD)、总睾酮、孕酮水平显著高于PCOS组(P<0.05);PCOS组黄体生成素(LH)、LH/卵泡刺激素(FSH)水平显著高于NC21-OHD组(P<0.05),最佳的2个鉴别指标为17-OHP和孕酮,最佳切点值分别为3.34 ng/ml(灵敏度89.7%,特异度93.1%)和0.64 ng/ml(灵敏度90.0%,特异度75.9%)。对比2组1日法中剂量地塞米松抑制试验(DST),NC21-OHD组17-OHP、孕酮、AD和总睾酮抑制率显著高于PCOS组(P<0.01),其抑制率最佳切点值分别为73.5%(灵敏度95.2%,特异度100.0%)、55.5%(灵敏度100.0%,特异度88.9%)、61.4%(灵敏度84.2%,特异度100.0%)和68.3%(灵敏度65.0%,特异度100.0%)。结论2组患者临床表现相似,最佳鉴别指标为17-OHP。1日法中剂量DST在2种疾病的鉴别中有重要作用。基因检测为鉴别2种疾病的金标准。Objective To explore the differential diagnosis methods between nonclassical 21-hydroxylase deficiency(NC21-OHD)and polycystic ovary syndrome(PCOS).Methods The clinical data of 31 women with NC21-OHD were compared with those of 29 women with PCOS.Results Women with NC21-OHD showed a higher prevalence of adrenal hyperplasia and lower likelihood of polycystic ovary(PCO)than those with PCOS(P<0.05),with lower height(P<0.05).The levels of adrenocorticotropic hormone(ACTH),17-hydroxyprogesterone(17-OHP),androstenedione(AD),total testosterone(TT),and progesterone were higher in women with NC21-OHD compared with those with PCOS(P<0.05).Women with PCOS had higher levels of luteinizing hormone(LH)and higher ratio of LH to follicle stimulating hormone(FSH)than those with NC21-OHD(P<0.05).The best two identification indexes for the two diseases were 17-OHP and progesterone,with the optimal cut-off points 3.34 ng/ml(sensitivity 89.7%,specificity 93.1%)and 0.64 ng/ml(sensitivity 90.0%,specificity 75.9%),respectively.During the 1-day mid-dose dexamethasone suppression test(DST),women with NC21-OHD had higher inhibition rates of 17-OHP,progesterone,AD,and TT(P<0.01)than those with PCOS.Their optimal cut-off values of suppression rates were 73.5%(sensitivity 95.2%,specificity 100.0%),55.5%(sensitivity 100%,specificity 88.9%),61.4%(sensitivity 84.2%,specificity 100.0%),68.3%(sensitivity 65.0%,specificity 100.0%),respectively.Conclusion The clinical manifestations of women with NC21-OHD are similar to those with PCOS.17-OHP is the best differential indicator and the 1-day mid-dose DST plays an important role in the identification of the two diseases.Genetic analysis is the gold standard for distinguishing the two diseases.

关 键 词：非经典型21-羟化酶缺陷症 多囊卵巢综合征 17-羟孕酮 孕酮 地塞米松抑制试验 

分 类 号：R711[医药卫生—妇产科学]