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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。
Objective To analyze the clinical features and the frequency and type of chromosomal abnormalities in premature ovarian failure (POF), and to guide clinical diagnosis and treatment. Methods A total of 212 POF patients were collected, and the chromosomal characteristics and clinical features of POF were retrospectively analyzed. Results The onset age of POF was (27.6 ± 6.6) years and the average age of menarche was (13.8 ± 1.5) years. The average age at first visit was (30.2 ± 6.6) years. The average duration of POF was (3.8 ± 3.8) years. 34 patients had a history of pregnancy, 21 patients had a history of childbirth. At follow-up, 58 patients with reproductive requirements were monitored by B ultrasound for ovulation and some showed intermittent ovarian activity. Of the 36 patients (62.07%), follicles developed at least once, of which 21 (58.33%) were observed ovulation; Four patients (6.90%) were pregnant and delivered healthy infants. The onset of POF in follicular growth patients was (29.3 ± 6.7) years old, which was greater than that of those without follicles [(22.9 ± 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 in those without ovulation (P = 0.02). 184 patients with karyotype 46, XX, of which 45 cases were polymorphic. The incidence of chromosomal abnormalities in POF patients was 13.21% (28 cases). Fifteen cases were X chromosome structural abnormalities, including 8 cases of del (Xq), 2 cases of del (Xp) and 5 cases of arm ischromosomes; 6 cases of X-chromosome Seven cases without X chromosome structural abnormalities, including two cases of non-chimerism 45, X, 4 cases of chimerism 45, X, 1 cases 47, XXX. Conclusion Menstrual disorders and oligomenorrhea patients should pay attention to whether it is a high risk population of POF. X chromosome structural abnormalities in POF patients is the main type of chromosomal abnormalities.