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Clinical investigation of the primary and secondary amenorrhea by cytogenetic analysis

Amenorrhea refers to the absence of menarche at the age of 14. To rule out the chromosomal abnormality (CA), clinical history was obtained from patients with the primary amenorrhea (PA) and secondary amenorrhea (SA) patients who may have also short stature, poorly developed secondary sexual characteristics, Blind vagina, Small ovaries, and Absence/Hypoplastic/Normal uterus in USG. Blood samples were collected, cultured, harvested, and banded with the GTG stain technique and analyzed in well-spread chromosomes. Amenorrhea accounts for 20% of female infertility. Among all proposed etiologies 40% of amenorrhea, patients are found to have a genetic cause. The present study included a total of 292 patients, 83.2% presented with PA, while 16.7% presented with SA. CAs were detected in 27% of PA and 18% of SA. The major findings involved numerical sex chromosome abnormalities including Turner Syndrome which is high in our study as observed in the literature. Other structural X chromosome has been identified in our study such as deletion: 46,X,del(X)(q22), Deletion/Duplication: 46,del(X)(q27),dup(X) (q21.3q27.1) and Inversion: 46,XX,inv(9)(p11q13) which were reported in the present study.