Primary amenorrhea occurs in 1 to 3% of women in the reproductive age group. This study is aimed to find of cytogenetic anomalies ratio and of genotype-phenotype correlation in patients with primary amenorrhea.

The cytogenetic study of 62 patients with primary amenorrhea was performed. Cases were analysed using FISH and molecular genetic methods to detect of SRY gene.

Chromosomal aberrations were seen in 11 cases (17.7%) and it comes second most common cause of primary amenorrhoea after mullerian duct abnormalities. The most common cause was Turner’s syndrome (TS) seen in 7 out of 11. Two cases of complete testicular feminisation syndrome with male genotype (46,XY) and inguinal testis were also detected. It has been observed positive SRY in patients with ADS. Other cases not detected the positive of SRY gene.

It is suggested that management of an patient with primary amenorrhea whose sex karyotype includes an XY cell line should include gonadal excision because of increased risk of neoplasia. TS is a relatively common cause of primary amenorrhea. Short stature is an almost invariable finding in women with TS. Treatment with biosynthetic growth hormone appears to be effective in increasing adult height in many of TS. In this reason , it is very important the early diagnosis of TS during childhood and adolescence. The genetic counselling should be realistic so that patients accept their condition, which will help them to adjust in society physically, psychologically, emotionally and socially.