摘要目的 探讨妊娠合并21羟化酶缺乏症(21-OHD)患者的临床特点及妊娠结局.方法 2005年1月至2011年4月间在北京协和医院妇产科分娩的21 -OHD合并妊娠患者8例,回顾性分析其妊娠期特点、临床处理、妊娠结局及新生儿情况.结果 8例21 -OHD合并妊娠患者中5例为单纯男性化型,3例为非经典型；妊娠期血17羟孕酮(17-OHP)水平[(70±38) nmol/L]高于妊娠前17-OHP水平[(24±23) nmol/L],两者比较,差异有统计学意义(P＜0.05).本次妊娠前及妊娠期均行低剂量糖皮质激素规范治疗,1例患者因妊娠期血17-OHP及睾酮水平明显升高治疗方案有调整.8例患者妊娠次数共计12次,活产次数8次,活产率8/12,其中青春期前首诊的患者活产率(4/5)高于青春期后首诊的患者(4/7).单纯外生殖器手术史4例,妊娠期糖尿病(GDM)发生率1/8；分娩孕周为37周+6～ 39周+6,分娩方式均为剖宫产.本次分娩的8例新生儿中男婴3例、女婴5例,出生体质量平均(3210±447)g,出生身长平均(48±2) cm,未发现确诊21-OHD的后代.结论 通过手术及药物治疗,21-OHD患者能获得满意的生育能力和妊娠结局,初治年龄越早效果越佳；妊娠前及妊娠期持续使用低剂量糖皮质激素治疗是安全的,治疗方案可根据妊娠期17-OHP和睾酮水平个体化调整.

abstractsObjective To investigate the clinical features and pregnant outcomes of the pregnant women with congenital adrenal hyperplasia (CAH) 21-hydroxylase deficiency (21-OHD).Methods The clinical features,therapies,pregnant outcomes of the pregnant women with 21-OHD were retrospectively reviewed in Peking Union Medical College Hospital,from January 2005 to April 2011.Results There were 8 pregnant women with 21-OHD including 5 siinple virilizing patients and 3 nonclassical 21-OHD women.Eight patients were accepted progestational and prenatal continual lower glucocorticoid treatment.During the gestational period,the dosage of glucocorticoid was adjusted in one pregnancy.The serum level of 17-alpha hydroxyprogesterone (17-OHP) were elevated after pregnancy [ (70 ± 38 ) versus (24 ±23) nmol/L,P ＜ 0.05].The fertility and offspring rate of 8 patients was 8/12,the fertility and offspring rate of patients who started treatment at preadolescence was significantly increased (4/5 versus 4/7).Four patients were accepted genital reconstructive surgery ( clitorectomy,clitoroplasty,vulvoplasty) before pregnancy.The incidence of GDM was 1/8.All patients selected caesarean at from 37 +6 gestation weeks to 39+6 gestation weeks.The average newborn birth weight was (3210 ± 447 ) g,and height was (48 ±2) cm of 8 neonates,none of them was CAH.Conclusions Medical and surgical therapy provides satisfactory fertility and pregnancy outcomes for women with 21-OHD.It is safe to pregnant women with 21-OHD and their fetus in continual lower glucocorticoid treatment.The dosage of glucocorticoid should be carefully adjusted during the pregnancy individually according to serum level of 17-OHP.