卵巢早衰212例临床研究

发布时间：2018-04-22 09:06

本文选题：卵巢早衰 + X染色体异常　；参考：《中国妇幼保健》2016年02期

【摘要】：目的分析卵巢早衰(POF)的临床特征及染色体异常的发生频率和类型,指导临床诊断及治疗。方法收集212例POF患者,回顾性分析POF患者的染色体特点及临床表现特征。结果 POF患者的发病年龄为(27.6±6.6)年,月经初潮的平均年龄为(13.8±1.5)年。初诊时平均年龄为(30.2±6.6)年。POF的持续时间平均为(3.8±3.8)年。34例患者有妊娠史,21例患者有生育史。在随访中,采用B超监测58例有生育要求的患者排卵,部分表现出间歇性的卵巢活动;36例患者(62.07%)卵泡至少发育1次,其中21例(58.33%)观察到排卵;4例患者(6.90%)怀孕,均分娩健康婴儿。有卵泡生长的患者POF发病年龄为(29.3±6.7)岁,大于没有卵泡生长的患者〔(22.9±9.1)岁〕,但差异无统计学意义(P=0.15)。排卵患者的平均POF持续时间显著短于无排卵患者(P=0.02)。184例患者染色体核型为46,XX,其中45例有多态性。POF患者染色体异常发生率为13.21%(28例),15例为X染色体结构异常,包括8例del(Xq),2例del(Xp),5例等臂染色体;6例X-常染色体易位;7例无X染色体结构异常,包括2例非嵌合体的45,X,4例嵌合体的45,X,1例47,XXX。结论对月经紊乱及月经稀发患者需注意是否是POF的高危人群。X染色体结构异常是POF患者的主要染色体异常类型。
[Abstract]:Objective to analyze the clinical features, frequency and type of chromosomal abnormalities of POF in premature ovarian failure (POF), and to provide guidance for clinical diagnosis and treatment. Methods the chromosome and clinical features of 212 patients with POF were analyzed retrospectively. Results the age of onset of POF was 27.6 卤6.6 years, and the mean age of menarche was 13.8 卤1.5 years. The mean age at first visit was 30.2 卤6.6 years. The mean duration of POF was 3.8 卤3.8 years. During the follow-up, 58 patients with fertility requirements were monitored for ovulation by B-mode ultrasound. Some of them showed intermittent ovarian activity (62.07) follicle development at least once, among which 21 cases (58.33) were observed ovulation in 4 cases (6.90%). All of them gave birth to healthy infants. The age of onset of POF in the patients with follicular growth was 29.3 卤6.7 years old, which was higher than that in the patients without follicular growth (22. 9 卤9. 1) years old, but the difference was not statistically significant (P < 0. 15). The mean duration of POF in ovulation patients was significantly shorter than that in patients without ovulation. The chromosome karyotype of 184 patients was 46xxx, and the chromosomal abnormality rate of 45 patients with polymorphic. POF was 13.21 / 28. The X chromosome structure was abnormal in 15 patients. Among them, 8 cases of delo Xqnong, 2 cases of dellum Xphe, 5 cases of isobaric chromosome, 6 cases of X- autosomal translocation, 7 cases without X chromosome structural abnormality, including 2 cases of non-chimerism 45 X, 4 cases of chimerism, 1 case of 47 X X, 4 cases of non-chimerism, 4 cases of chimerism, 1 case of 47 X X, and 4 cases of non-chimerism. Conclusion to the patients with menstrual disorder and menorrhagia, we should pay attention to whether it is the high risk population of POF. X chromosome structure abnormality is the main type of chromosomal abnormality in POF patients.
【作者单位】：南方医科大学附属深圳市妇幼保健院;
【基金】：广东省深圳市科技研发资金知识创新计划基础研究项目(JCYJ20140414153700888) 广东省深圳市卫生计生系统科研项目(201401058,201501035)
【分类号】：R711.75

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