ABSTRACT
Objective: Amenorrhea is an abnormal condition characterized by the absence of menstruation in women of reproductive age. According to the World Health Organization, amenorrhea ranks as the sixth leading cause of female infertility. Approximately 2% to 5% of women of reproductive age experience amenorrhea, which can be classified as primary amenorrhea (PA) or secondary amenorrhea (SA). Several studies have named chromosomal abnormalities among the main causes of amenorrhea, though the prevalence of these abnormalities may differ across populations. The objective of this study was to ascertain the frequency and types of chromosomal abnormalities in women with amenorrhea in Kermanshah Province, Iran. Methods: This retrospective study included patients with PA and SA who underwent standard cytogenetic analysis. We also conducted a review of the literature on chromosomal abnormalities and their prevalence in SA. Results: Among the 137 cases of PA in this study, 22% exhibited chromosomal abnormalities. Numerical changes were the most common finding (46.6%) in this group, including 45,X, mosaic, and 47,XXX karyotypes. These were followed by the 46,XY karyotype (40%). Of the 51 cases of SA that received chromosomal analysis, abnormalities were identified in only one case. Additionally, our review of the literature revealed that chromosomal aberrations are responsible for 7% of SA cases globally. Conclusion: In this study, we successfully characterized the cytogenetic causes of PA and SA in a substantial population from Kermanshah Province, Iran.
ABSTRACT
OBJECTIVES: Recurrent pregnancy loss (RPL) is a serious complication of pregnancies, affecting almost 2%-5% of couples. Among numerous underlying causes, chromosomal anomalies in one of the partners are regarded as important issues, with varying frequencies among different populations. In this study, we aimed to determine the prevalence of chromosomal abnormalities and chromosome polymorphisms in couples with a history of RPL from Kermanshah province, west of Iran. MATERIALS AND METHODS: In this 11-year retrospective study, a total of 1140 cases with two or more spontaneous abortions were recruited and studied according to standard cytogenetic analysis. RESULTS: From a total of 1140 reviewed blood samples, 1011 people (88.5%) had a normal karyotype and 129 people (11.5%) had chromosomal aberrations. These aberrations were found in 62 females and 67 males. The prevalence of chromosomal abnormalities was as follows: 18 (1.5%) structural aberrations, 1 numerical anomaly and 110 (9.6%) apparently normal polymorphic variants. CONCLUSIONS: Our findings could determine the underlying cause of RPL in 1.5% of the population while the majority still remained unexplained. This emphasizes the importance of searching for other genetic and nongenetic causes of RPL in apparently idiopathic cases of RPL.
