高雄激素血症患者非经典型21-羟化酶缺陷症与多囊卵巢综合征的鉴别

Identification of nonclassical steroid 21-hydroxylase deficiency and polycystic ovary syndrome in androgen excess patients

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 screen non-classical 21 hydroxylase deficiency（21-OHD）in androgen excess patients,especially those with polycystic ovary syndrome（PCOS）.Methods Female patients with androgen excess who were excluded from Cushing Syndrome or ovarian tumor in our hospital between January 2014 and August 2015 were included;their clinical data were analyzed.The CYP21A2 genes of all patients were analysed by direct sequencing.Results Forty-four patients were included in this study,7of whom were diagnosed as nonclassical 21-OHD and 37 as PCOS.The levels of 17-hydroxyprogesterone and progesterone of patients with nonclassical 21-OHD were significantly higher as compared with those of patients with PCOS（P=0.011 and 0.012respectively）.There were no statistical differences in adrenocorticotropic hormone,cortisol,testosterone,free-testosterone,androstenedione,LH,FSH and PRL between two groups of patients.Conclusion Clinical manifestations of nonclassical 21-OHD are similar to those of PCOS.Detection of adrenal hormones especially 17-hydroxyprogesterone and genetic analysis can help clinical physicians to distinguish these two diseases and provide correct treatment.