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目的探讨非经典型21-羟化酶缺陷症(21-OHD)与多囊卵巢综合征(PCOS)的鉴别要点,为临床准确的诊断和及时的治疗提供可靠的临床及实验室依据。方法收集2014年1月至2015年8月在我院内分泌科门诊及住院患者中女性高雄激素血症病例,分析其临床资料的特点,并进行CYP21A2基因分析。结果共收集到合乎纳入标准患者44例,其中包括7例非经典型21-OHD和37例PCOS。实验室检测数据表明,非经典型21-OHD患者的17-羟孕酮、孕酮与PCOS患者相比明显增高,差异具有统计学意义(P值分别为0.011、0.012),促肾上腺皮质激素、皮质醇、睾酮、游离睾酮、雄烯二酮、促黄体生成素、卵泡刺激素、催乳素等指标的差异不具有统计学意义。结论非经典型21-OHD临床表现与PCOS很相似,但治疗方法截然不同,进行肾上腺相关激素测定,尤其是17-羟孕酮的测定,并结合基因检测,有助于这两种疾病的鉴别,从而使临床医师对治疗方案做出正确选择。
Objective To explore the main points of distinguishing non-classical 21-hydroxylase deficiency (21-OHD) from polycystic ovary syndrome (PCOS) and provide reliable clinical and laboratory evidence for clinical diagnosis and prompt treatment. Methods From January 2014 to August 2015 in our hospital endocrine outpatient and inpatient cases of female patients with hyperandrogenism cases, analysis of the characteristics of clinical data, and CYP21A2 gene analysis. Results A total of 44 eligible patients were included, including 7 non-classic 21-OHD and 37 PCOS. Laboratory testing data showed that 17-OHP and progesterone in non-classical 21-OHD patients were significantly higher than those in PCOS patients (P = 0.011 and 0.012, respectively), adrenocorticotropic hormone, Cortisol, testosterone, free testosterone, androstenedione, luteinizing hormone, follicle stimulating hormone, prolactin and other indicators of the difference was not statistically significant. Conclusion The clinical manifestations of non-classical 21-OHD are similar to those of PCOS, but the treatment methods are quite different. Adrenal hormone-related hormones, especially 17-hydroxyprogesterone, combined with genetic tests are helpful in the identification of these two diseases , So that clinicians make the right choice of treatment options.