Chromosomal analysis in 110 patients with primary amenorrhea

Abstract

Objects: This study was undertaken to investigate frequency and the type of chromosomal aberrations which are causing primary amenorrhea in our patients. Methods: The study subjects included 110 patients referred with primary amenorrhea for cytogenetics investigation and counseling. Primary amenorrhea was defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older, or aged 16 years or older if secondary sexual characteristics were present. Peripheral blood samples were processed using standard techniques. All spacimens were G-banded using tripsin-Giemsa. For each case, 22 metaphase spreads were analyzed and when mosaicism was suspect 100 metaphases were examined. Results: We have examined cytogenetically 110 patients with primary amenorrhea. Chromosomal aberrations were detected in 21 cases (19,1%). Male karyotype (46,XY) was found in seven cases, as well as monosomy X (45,X). In three cases isochromosome X (46,XiXq) was detected. We found two cases of mosaic karyotype 46,XX/45,X and X chromosome trisomy (47,XXX) and mosaic karyotype 45,X/46,XiXq in one case each. Conclusion: Chromosome aberrations are one of the main causes of primary amenorrhea. The search for genetic component is the utmost importance for diagnosis, risk assessment and genetic counseling.