Song Zhiqiang, Wang Qiuyu, Wu Jianchen, Li Ranwei
Department of Urology, The First Hospital of Tsinghua University, Beijing, China.
School of Clinical Medicine, Tsinghua University, Beijing, China.
Medicine (Baltimore). 2025 Jan 17;104(3):e41358. doi: 10.1097/MD.0000000000041358.
Infertility is a worldwide public health issue. Fifty percent of infertile couples are male-only. A number of male infertility etiologies are significantly influenced by chromosomal abnormalities. Clinical manifestations, however, differ according to the presence of aberrant chromosomes and distinct breakpoints. The reproductive effects of inversion are evident in those who carry it. The influence of inverted carriers on male infertility may be explained by the interchromosomal effect, although further research is still needed to determine the precise mechanism. Furthermore, selecting clinical reproductive technology presents difficulties for both physician and patients. The aim of this study is to determine the clinical characteristics of 4 males who have an inversion of chromosome 7, and to investigate the connection between the breakpoints of this chromosome and male infertility. For each patient, cytogenetic and semen analyses were carried out. Using PubMed or Online Mendelian Inheritance in Man, relevant research and genes on breakpoints on chromosome 7 were found. This study includes 4 male infertile patients, all of whom had chromosome 7 inversions. 46,XY,inv(7)(p22q22), 46,XY,inv(7)(p21q11.2), 46,XY,inv(7)(p21q21), and 46,XY,inv(7)(p15q36) were the results of the cytogenetic analysis. Three cases of aberrant semen parameters were detected by semen detection. After a literature search, 21 cases of chromosome 7 inversion carriers were found. These carrier couples have varying reproductive histories. Among the 5 cases where semen parameters are available, 1 is azoospermia and 1 is oligoasthenozoospermia. Five significant genes on chromosome 7 have been linked to male infertility. Changes in semen parameters may be connected to the breakpoints 7q11, 7q21, 7q22, and 7q36. Physicians should take into account the relevant breakpoints when offering genetic counseling to patients who have chromosome 7 inversion.
不孕不育是一个全球性的公共卫生问题。50%的不孕夫妇问题出在男方。许多男性不育病因都受到染色体异常的显著影响。然而，临床表现会因异常染色体的存在和不同断点而有所不同。倒位对生殖的影响在携带者身上很明显。倒位携带者对男性不育的影响可能是由染色体间效应来解释的，不过仍需进一步研究以确定确切机制。此外，选择临床生殖技术对医生和患者来说都存在困难。本研究的目的是确定4名7号染色体倒位男性的临床特征，并研究该染色体断点与男性不育之间的联系。对每位患者都进行了细胞遗传学和精液分析。利用PubMed或《人类孟德尔遗传在线》，找到了与7号染色体断点相关的研究和基因。本研究包括4名男性不育患者，他们都存在7号染色体倒位。细胞遗传学分析结果为46,XY,inv(7)(p22q22)、46,XY,inv(7)(p21q11.2)、46,XY,inv(7)(p21q21)和46,XY,inv(7)(p15q36)。精液检测发现3例精液参数异常。经文献检索，发现21例7号染色体倒位携带者。这些携带者夫妇有不同生殖史。在有精液参数的5例中，1例无精子症，1例少弱精子症。7号染色体上有5个重要基因与男性不育有关。精液参数的变化可能与7q11、7q21,、7q22和7q36断点有关。医生在为7号染色体倒位患者提供遗传咨询时应考虑相关断点。
