Investigation of the Frequency and Type of Chromosomal Abnormalities in Women Patients with Amenorrhea

Amenorrhea is defined as the absence of menstruation at the reproductive age of women. Amenorrhea caused by various etiological factors including genetic factors, intrauterine malformations, endocrine dysfunction, and environmental factors. Genetic factors particularly chromosomal abnormalities are the main cause of Amenorrhea. This study was performed to estimate the frequency and types of chromosomal abnormalities in patients with amenorrhea in the northeast of Iran.

A total of 381 women with the history of amenorrhea participated in this study. Peripheral blood lymphocyte cultures were performed according to the standard GTG banding method.

296 (77%) of a total of all cases had a normal karyotype (46, XX) while 85 patients (23%) had abnormal karyotype. The numerical and structural abnormalities of X chromosome were observed in 52 (61%), the abnormalities of Y chromosome were observed in 23 (27.2%) and rearrangements between autosomal and/or sex chromosomes were observed in 10 (11.8%).

The present study revealed that cytogenetic study is essential for early diagnosis and treatments of Amenorrhea.