{"title":"携带7号染色体反转的男性的生育问题:一项回顾性观察研究。","authors":"Zhiqiang Song, Qiuyu Wang, Jianchen Wu, Ranwei Li","doi":"10.1097/MD.0000000000041358","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 3","pages":"e41358"},"PeriodicalIF":1.3000,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749713/pdf/","citationCount":"0","resultStr":"{\"title\":\"Fertility problems in men carrying chromosome 7 inversion: A retrospective, observational study.\",\"authors\":\"Zhiqiang Song, Qiuyu Wang, Jianchen Wu, Ranwei Li\",\"doi\":\"10.1097/MD.0000000000041358\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":18549,\"journal\":{\"name\":\"Medicine\",\"volume\":\"104 3\",\"pages\":\"e41358\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-01-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749713/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MD.0000000000041358\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000041358","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
摘要
不孕不育是一个世界性的公共卫生问题。50%的不孕夫妇都是男性。一些男性不育的病因是显著影响染色体异常。然而,临床表现根据异常染色体的存在和不同的断点而不同。反转对生殖的影响在那些携带它的人身上很明显。反向携带者对男性不育的影响可能是染色体间效应,但其确切机制仍需进一步研究。此外,选择临床生殖技术给医生和患者都带来了困难。本研究的目的是确定4例7号染色体倒位男性的临床特征,并探讨该染色体的断点与男性不育之间的联系。对每位患者进行细胞遗传学和精液分析。利用PubMed或Online Mendelian Inheritance in Man,找到了7号染色体断点的相关研究和基因。本研究包括4例男性不育患者,他们都有7号染色体倒位。46,XY,inv(7)(p22q22), 46,XY,inv(7)(p21q11.2), 46,XY,inv(7)(p21q21), 46,XY,inv(7)(p15q36)为细胞遗传学分析结果。通过精液检测,发现3例精液参数异常。经文献检索,共发现21例7号染色体倒位携带者。这些携带病毒的夫妇有不同的生育史。在精液参数可查的5例中,1例为无精子症,1例为少弱精子症。7号染色体上的5个重要基因与男性不育有关。精液参数的变化可能与断点7q11、7q21、7q22和7q36有关。医生在为7号染色体倒位患者提供遗传咨询时,应考虑到相关的断点。
Fertility problems in men carrying chromosome 7 inversion: A retrospective, observational study.
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.
期刊介绍:
Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties.
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