毛根鞘X染色质检查在妇科领域中应用

目的 探讨毛根鞘性染色质检查在原发性闭经及性发育异常诊治中的临床意义。方法 采用毛根鞘检出X染色质方法对原发性闭经及性发育异常患者进行筛查，配合核型分析作为病因诊断。结果 患病组186例中检出性染色质异常者73例(39．2％)，其中染色体异常患者及XY个体36例(49．3％)，所有XY个体均为性染色质阴性。结论 在原发性闭经及性发育异常人群中进行性染色质筛查，有助于病因诊断及XY个体检出。毛根鞘检出X染色质的方法具有操作简便、受检者无痛苦、不易受细菌污染的优点。但需配合染色体检查，才能明确诊断。

X chromation examination in hair root cells apply to the domain o f gynecology

Objective: To detect the clinical significance of the Sex chromatin examination in the diagnosis and treatment of primary amenorrhea and sex development anomaly.Methods: X chromatin examination in the cells of hair root were used to screen the patients with primary amenorrhea and sex development anomaly,and etiological diagnosis was thus established with the help of chromosome karyotype analysis. Results: In the 186 patients with primary amenorrhea and sex development anomaly were found 73(39.2%) sex chromatin abnormalities,among which there were 36 sex chromosome abnormalities and XY individual(49.3%).All the XY individual turned out to be negative in sex chromatin examination.Conclusions: Sex chromatin screening examination can help to make etiological diagnosis and to find XY individuals in the cases of primary amenorrhea and sex development anomaly.The technique of sex chromatin examination in hair root cells is simple,painless,and without the fear of bacterial contamination.However it could be used only to screen patients,and the establishment of sex chromosome diseases should be further helped by the chromosome karyotype analysis.