孕酮在非经典型21羟化酶缺乏症和多囊卵巢综合征鉴别诊断中的作用

目的 寻找可用于鉴别诊断非经典型21羟化酶缺乏症（nonclassical 21-hydroxylase deficiency,NC21-OHD）和多囊卵巢综合征（PCOS）的简单方法.方法 对1991至2008年在我院诊断为NC21-OHD 9例患者及27例PCOS患者的基本临床特征和激素水平进行回顾性分析.结果 NC21-OHD患者年龄显著小于PCOS患者（P〈0.05）.NC21-OHD患者以多毛、月经异常、外阴异常等合并症状为主要就诊原因,临床特征还包括皮肤颜色变黑、声音增粗、痤疮、喉结等表现;PCOS患者上述体貌特征不明显,常以月经异常、不育就诊.NC21-OHD患者血清总睾酮（T）、孕酮（P）和黄体生成素（LH）分别为（11.1±6.25） nmol/L 、（14.95±8.9） nmol/L和（11.1±9.9） U/L;PCOS患者血清总T、P和LH分别为（2.43±1.39） nmol/L、（2.86±1.27） nmol/L和（8.9±5.6） U/L,各值比较差异均有统计学意义（P〈0.05）.雌二醇（E2）、卵泡刺激素（FSH）、LH/FSH在两组间比较均无统计学差异（P〉0.05）.结论 在临床背景上鉴别NC21-OHD和PCOS存在困难.卵泡期显著增高的P水平对NC21-OHD和PCOS初步鉴别诊断有一定提示意义.

Progesterone test in differential diagnosis of non-classical 21 hydroxylase deficiency and polycystic ovarian syndrome

Objective： To explore a simple and effective method for differential diagnosis of non-classical 21 hydroxylase deficiency （NC21-OHD） and polycystic ovarian syndrome （PCOS）. Methods： This retrospective study included 9 cases of NC21-OHD diagnosed in Peking Union Medical College Hospital from 1991 to 2008 and randomly sampled 27 cases of PCOS. The clinical features and the levels of sexual hormones of these patients were analyzed. Results： The patients with NC21-OHD were much younger than the PCOS patients （P〈0.05）. The main causes of visiting a doctor in NC21-OHD patients included hirsutism and abnormal menstruation, with or without ambiguous genitalia. The clinical features of NC21-OHD patients also included dark skin, acne, thickened voice, or apparent laryngeal prominence. However, PCOS patients did not have these features, and their complaints were abnormal menstruation or infertility. The mean levels of serum testoster- one, progesterone and luteinizing hormone （LH） in NC21-OHD patients were higher than those of PCOS patients （P〈0.05）. There was no statistical difference in the levels of estradiol, follicle-stimulating hormone （FSH） or the ratio of LH and FSH between the two groups （P〉0.05）. Conclusions： The serum level of progesterone could be a simple valuable chemical indicator that helps gynecologists to differentiate NC21OHD from PCOS.