闭经女性患者染色体异常的频率及类型调查
Investigation of the Frequency and Type of Chromosomal Abnormalities in Women Patients with Amenorrhea.
作者信息
Motamedirad Neda, Hosseini Susan, Ebrahimzadeh-Vesal Reza, Tootian Semiramis, Abbaszadegan Mohammad Reza
机构信息
Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Medical Genetics Research Center, Medical School, Mashhad University Medical Sciences, Mashhad, Iran.
出版信息
Rep Biochem Mol Biol. 2022 Oct;11(3):450-456. doi: 10.52547/rbmb.11.3.450.
BACKGROUND
Amenorrhea is defined as the absence of menstruation at the reproductive age of women. Amenorrhea caused by various etiological factors including genetic factors, intrauterine malformations, endocrine dysfunction, and environmental factors. Genetic factors particularly chromosomal abnormalities are the main cause of Amenorrhea. This study was performed to estimate the frequency and types of chromosomal abnormalities in patients with amenorrhea in the northeast of Iran.
METHODS
A total of 381 women with the history of amenorrhea participated in this study. Peripheral blood lymphocyte cultures were performed according to the standard GTG banding method.
RESULTS
296 (77%) of a total of all cases had a normal karyotype (46, XX) while 85 patients (23%) had abnormal karyotype. The numerical and structural abnormalities of X chromosome were observed in 52 (61%), the abnormalities of Y chromosome were observed in 23 (27.2%) and rearrangements between autosomal and/or sex chromosomes were observed in 10 (11.8%).
CONCLUSION
The present study revealed that cytogenetic study is essential for early diagnosis and treatments of Amenorrhea.
背景
闭经被定义为女性生殖年龄期间月经缺失。闭经由多种病因引起，包括遗传因素、子宫内畸形、内分泌功能障碍和环境因素。遗传因素尤其是染色体异常是闭经的主要原因。本研究旨在评估伊朗东北部闭经患者染色体异常的频率和类型。
方法
共有381名有闭经病史的女性参与了本研究。根据标准的GTG显带法进行外周血淋巴细胞培养。
结果
所有病例中296例（77%）核型正常（46, XX），而85例患者（23%）核型异常。52例（61%）观察到X染色体的数目和结构异常，23例（27.2%）观察到Y染色体异常，10例（11.8%）观察到常染色体和/或性染色体之间的重排。
结论
本研究表明细胞遗传学研究对于闭经的早期诊断和治疗至关重要。
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