Cytogenetic analysis of patients with amenorrhea

Objective: To analyse the cytogenetic examination results and investigate the effect of chromosome abnormalities on amenorrhea.Methods: The routine cytogenetic analysis was performed, including the chromosome G band analysis and karyotype analysis of the cultured peripheral blood lymphocytes from the patients with primary amenorrhea or secondary amenorrhea.Results: One hundred and thirty-seven cases were found with chromosome abnormalities in 234 patients with primary amenorrhea. The incidence of chromosome abnormality was 58.6%. In 309 with secondary amenorrhea, the incidence of chromosome abnormality was 13.6%.The reported abnormalities included the numerical and structural abnormalities of X chromosome, 46,XY, 45,X0/46,XY,and the structural abnormality of autosome.Conclusions: Chromosome abnormality is one of the main causes of amenorrhea. Karyotype analysis of chromosome is absolutely necessary for the diagnosis and treatment of patient with amenorrhea.