Cytogenetic study of primary amenorrhoea.

ABSTRACT

A study of chromosomal pattern was done in 60 cases of primary amenorrhoea of different age groups to determine the incidences of chromosomal abnormalities in them and to detect those cases of classical 45, X Turner's syndrome and Turner mosaics that do not bear the Turner stigmata. Buccal smears were examined for sex chromatin followed by karyotype using leucocyte culture method. Majority (63.3%) of cases were found chromosomally incompetent of which the major abnormality was 45, X/46, XX mosaicism (33.3%) followed by 45, X Turner's syndrome (26.6%). But only 43.7% of these Turner's syndrome had classical Turner stigmata. Two cases of complete testicular feminisation syndrome with male genotype (46,XY) and inguinal testis were also detected.