CAJ | 학술논문

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.
목적 탐토임신합병21간화매결핍증(21-OHD)환자적림상특점급임신결국.방법 2005년1월지2011년4월간재북경협화의원부산과분면적21 -OHD합병임신환자8례,회고성분석기임신기특점、림상처리、임신결국급신생인정황.결과 8례21 -OHD합병임신환자중5례위단순남성화형,3례위비경전형；임신기혈17간잉동(17-OHP)수평[(70±38) nmol/L]고우임신전17-OHP수평[(24±23) nmol/L],량자비교,차이유통계학의의(P＜0.05).본차임신전급임신기균행저제량당피질격소규범치료,1례환자인임신기혈17-OHP급고동수평명현승고치료방안유조정.8례환자임신차수공계12차,활산차수8차,활산솔8/12,기중청춘기전수진적환자활산솔(4/5)고우청춘기후수진적환자(4/7).단순외생식기수술사4례,임신기당뇨병(GDM)발생솔1/8；분면잉주위37주+6～ 39주+6,분면방식균위부궁산.본차분면적8례신생인중남영3례、녀영5례,출생체질량평균(3210±447)g,출생신장평균(48±2) cm,미발현학진21-OHD적후대.결론 통과수술급약물치료,21-OHD환자능획득만의적생육능력화임신결국,초치년령월조효과월가；임신전급임신기지속사용저제량당피질격소치료시안전적,치료방안가근거임신기17-OHP화고동수평개체화조정.
Objective 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.