Contribution of chromosomal aberrations to the pathogenesis of primary and secondary amenorrhea: A study from Western Iran.

IF 1.8 Q3 OBSTETRICS & GYNECOLOGY Clinical and Experimental Reproductive Medicine-CERM Pub Date : 2024-07-22 DOI:10.5653/cerm.2024.06807
Azam Azimi, Matin Heidari, Reza Alibakhshi, Sara Hamani, Negar Salimi, Parham Nejati, Nazanin Jalilian
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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.

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染色体畸变对原发性和继发性闭经发病机制的影响:伊朗西部的一项研究。
目的:闭经是育龄妇女没有月经的一种异常情况。据世界卫生组织统计,闭经是导致女性不孕的第六大原因。约有 2%至 5%的育龄妇女出现闭经,可分为原发性闭经(PA)和继发性闭经(SA)。一些研究指出,染色体异常是导致闭经的主要原因之一,但这些异常的发生率在不同人群中可能有所不同。本研究旨在确定伊朗克尔曼沙阿省闭经妇女中染色体异常的频率和类型:这项回顾性研究纳入了接受标准细胞遗传学分析的 PA 和 SA 患者。我们还回顾了有关染色体异常及其在 SA 中发病率的文献:结果:在本研究的 137 例 PA 患者中,22% 表现出染色体异常。数字变化是这组病例中最常见的发现(46.6%),包括 45,X、马赛克和 47,XXX 核型。其次是 46,XY 核型(40%)。在 51 例接受染色体分析的 SA 患者中,只有一例发现异常。此外,我们的文献综述显示,全球 7% 的 SA 病例是由染色体畸变引起的:在这项研究中,我们成功鉴定了伊朗克尔曼沙阿省大量人群中 PA 和 SA 的细胞遗传学病因。
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