Özet:

Primary amenorrhea occurs in 1% to 3% of females in the reproductive age. The study aimed at finding the ratio of cytogenetic anomalies and genotype phenotype correlations in primary amenorrhea patients. Primary amenorrhea studies were conducted in 62 cases. Facts were analyzed using the SRY gene FISH and molecular genetic methods. Chromosomal aberations were found in 11 cases. Chromosomal abnormalities are the second most common cause of primary amenorrhea after mutilary canal abnormalities. The most common chromosomal anomaly is Turner syndrome, which is seen in 7 of 11 cases. The male genotype and anguinal testicular feminization (ADS) were detected in 2 cases. In two cases of ADS, SRY was found positive. In other cases, there was no positive SRY. If a caryotypine containing the XY cell line is present in a primary amenorary condition, gonadoctomy should be recommended due to an increased risk of neoplasm. Turner syndrome is an unusual cause of primary amenorrhea. The short size is an unchanged sight in women with TS. Treatment with biosenthetic growth hormone has been shown to be effective in the increase in adult size in most of the phenomena with TS. Therefore, early diagnosis of TS in childhood and adolescence is quite important. Genetic consulting should be realistic in terms of acceptance of the condition of patients. This can help patients adapt physically, psychically, emotionally and socially to society.

Anahtar Kelimeler: