Abstract: Objective: To investigate chromosome abnormity and endocrine hormones in patients with primary amenorrhea.Methods: Chromosomes were prepared by culturing lymphocytes obtained from peripheral blood, G banding technique or regular chromosomal detecting method was used. Endocrine hormones were examined by enzyme-linked immunosorbent assay （ELISA）. Results: Among all of patients, 32 cases were with chromosome abnormity including 18 cases with 45, X0, 7 cases with chimera 45,X0/46,XX, 5 cases with structure chromosome abnormality and 2 cases with 46,XY. The follicle-stirnulating hormone（FSH） in the chromosome abnormity group was higher than the upper reference limit aod the normal chromosome group, the estradiol（E2） was less than the lower reference limit and the normal chromosome group. The luteinic hormone （LH）, testosterone（T） and proclaim（PRL） in the two groups all were in the reference interval and the difference between two groups was not significant.Conclusion: It is very importment that chromosome and endocrine hormone analysis are used simultaneously to estimate the etiology of primary amenorrhea.