Association of X Chromosome Aberrations with Male Infertility

Q4 Medicine

Acta Medica Bulgarica Pub Date : 2021-11-01 DOI:10.2478/amb-2021-0051

S. Xharra, E. Behluli, A. Moder, H. Nefic, R. Hadziselimovic, G. Temaj

引用次数: 0

Abstract

Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.

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X染色体畸变与男性不育的关系

摘要男性不育是由精子发生失败引起的，临床上称为少精或无精子症。大约20%的不孕症患者携带遗传缺陷。导致无精子症(或严重少精子症)最常见的遗传缺陷是Klinefelter综合征(47,XXY)，这是一种数字染色体异常和Y结构染色体畸变。人类的X染色体是所有染色体中最稳定的。X染色体装载着获得性的、快速进化的基因区域。X染色体实际上可能在男性不育和精子产生中起着至关重要的作用。这里我们将描述与男性不育相关的X染色体畸变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Acta Medica Bulgarica Medicine-Medicine (all)

CiteScore

0.30

自引率

0.00%

发文量

审稿时长

25 weeks

期刊介绍： About 30 years ago - in 1973, on the initiative of the Publishing House „Medicine and Physical Culture", namely its former director Mr. Traian Ivanov, the Ministry of Health set up and accepted to subsidize a new medical magazine that was to be published only in the English language and had to reflect the status and the achievements of the Bulgarian medical science. Thus the language barrier was overcome and stable relations were established with the international medical society, large libraries, and university centers. The famous internationally known scientist professor Assen A. Hadjiolov was elected edition-in-chief by the first editorial staff and the magazine was named Acta Medica Bulgarica.