AUTHOR=Liang Yi , Xie Yingjun , Kong Shu , Pan Qianying , Qiu Wenjun , Wang Ding , Li Mengting , Lin Sisi , Liu Zihang , Sun Xiaofang 

TITLE=Complex Chromosomal Rearrangement Causes Male Azoospermia: A Case Report and Literature Review

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.792539

DOI=10.3389/fgene.2022.792539

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> Male carriers of complex chromosomal rearrangements (CCRs) may have decreased fertility and usually present with azoospermia, oligospermia or teratospermia.</p><p><bold>Methods:</bold> High-resolution karyotype analysis using G-banding on peripheral blood lymphocytes was performed in an azoospermic male. Copy number variations (CNVs) were detected by chromosomal microarray analysis, and genetic variations were determined by long-read nanopore sequencing with Sanger sequencing for breakpoint confirmation.</p><p><bold>Results:</bold> The karyotype of the patient was 46,XY,t(4;21)(p11;p11),t(5;6;14)(p13q22;p22q22;q22), which did not involve CNVs with clinical significance. Twelve breakpoints in chromosomes 5, 6, and 14 were found by long-read nanopore sequencing. Reports on 17 males carrying CCRs with azoospermia were also reviewed.</p><p><bold>Conclusion:</bold> The extent of asynaptic regions in synaptonemal complexes during pachytene and the disruption of genes involved in male gametogenesis may cause azoospermia in CCR carriers.</p>