{"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}
引用次数: 0
Abstract
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.
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