Cytogenetic analysis of 455 cases of amenorrhea patients

Objective To study the clinical significance of peripheral blood cell chromosome examination in the diagnosis of amenorrhea patients.Methods 455 patients with amenorrhea who treated in our department from Junuary 1990 to Junuary 2103 were recruited in this study.Patients were divided into primary amenorrhea group and secondary amenorrhea group according to the usual presence of menstrual period.The clinical features and the peripheral blood lymphocyte chromosome were compared between the two groups.Results In 455 patients with amenorrhea,chromosome abnormalities was detected in 104cases(22.86%),including 24.59%(89/362)in primary amenorrhea chromosome abnormality grouo and 16.13%(15/93)in secondary amenorrhea group.There were156 patients with congenital uterine and/or with vagina in the primary amenorrhea group,124 of them with normal chromosome chromosome and 35 ith abnormal.Endocrine abnormal rate was 20.17%(73/362)in primary amenorrhea group and 68.82%(64/93)in secondary amenorrhea group.Among the abnormal chromosomes,Y chromosomes accounted for 30.77%(32/104),abnormalaneuploidy of X chromosome accounts for 46.15%(48/104),X chromosome structural abnormalities account for 19.23%(20/104)and abnormal autosomal accountes for 3.85%(4/104).Conclusions Chromosome abnormality is a major cause of amenorrhea,not only patients with primary amenorrhea but also those with secondary amenorrhea should receive chromosome examination.