A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report

Ak, Chakraborty; Palo, Indira; S, Roy; Koh, Shu Wen; Hande, M. Prakash; Banerjee, Birendranath

doi:10.18502/jri.v22i2.5802

Cited by 4 publications

(5 citation statements)

References 20 publications

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“…Özcan et al [ 28 ] reported that a case of 22q11.2 deletion syndrome with azoospermia, and speculated that azoospermia can be one of the unknown clinical features of this syndrome. Chakraborty et al [ 10 ] reported a case of 46,XY,t(19;22)(19q13.4;22q11.2) with azoospermia. Gada Saxena et al [ 29 ] reported that a case of 46,XY,t(11;22)(q23;q11) showed male infertility.…”

Section: Discussionmentioning

confidence: 99%

“…[5] A large number of studies showed that balanced translocation may reduce fertility due to the production of unbalanced gametes. [7][8][9][10] Some studies showed that the breakpoint of chromosome translocation may disrupt or dysregulate important genes related to spermatogenesis, which lead to infertility. [7,11] The relationship between some breakpoints of chromosome and male infertility has been reported.…”

Section: Introductionmentioning

confidence: 99%

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Association between chromosome 22q11.2 translocation and male oligozoospermia

et al. 2022

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Chromosomal aberrations in peripheral blood are a major cause of reproductive disorders for the infertile couples. Reciprocal translocation is closely related to male infertility. The breakpoint of translocation may disrupt or dysregulate important genes related to spermatogenesis. The relationship between some breakpoints of chromosome and male infertility has been paid attention. Chromosome 22q11.2 translocation has not been reported with male infertility. The purpose of this study is to evaluate the relationship between chromosome 22q11.2 translocation and male infertility. All patients were collected from the second hospital of Jilin University. Semen parameters were detected using the computer-aided semen analysis system. Cytogenetic analysis was performed using standard operating procedure. Related genes on chromosomal breakpoints were searched using online mendelian inheritance in man (OMIM). The association between this breakpoint and spermatogenesis is also discussed. We report 6 cases of translocation in chromosome 22. Of 7 breakpoints involved in these translocations, the common feature is that they all included chromosome 22q11.2 translocation and presented with oligozoospermia. The analysis of breakpoint related genes showed testis-specific serine/threonine kinase 2 ( TSSK2 ) gene is associated with human spermatogenesis impairment. Overall, these results suggest that the breakpoint involved in translocation deserves attention from physicians in genetic counseling. The breakpoint rearrangement has the possibility of disrupting spermatogenesis. The relationship between 22q11.2 breakpoint and male infertility deserves further study.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association between chromosome 22q11.2 translocation and male oligozoospermia

et al. 2022

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“…De novo translocations are more perilous than inherited translocations. There may be multiple or triple reciprocal translocations at times [13].…”

Section: S Nomentioning

confidence: 99%

Background, Diagnosis, Types, Management/Prevention and Implications of Chromosomal Abnormalities

Poornima¹,

Vadrevu²,

Khan³

2022

Down Syndrome and Other Chromosome Abnormalities

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Chromosomal abnormalities are caused by both meiotic and mitotic errors, and can be found in both reproductive and somatic cells. Meiotic and mitotic errors, on the other hand, may result in the development of abnormal copies of chromosomes. Somatic cell chromosomal abnormalities cause mosaicism, which implies that certain cells are normal while others express the abnormality. Fascinating genetic chromosomal discoveries have given answers to mysteries in children suffering from premature growth/retardation, ambiguous genitalia, metabolic disorders, dysmorphic syndromes, primary amenorrhea, infertility, recurrent pregnancy loss, and cancers. Many factors influence the risk of chromosomal abnormalities, including advanced maternal age, environmental factors such as smoking, alcohol intake, and exposure to chemicals/radiation, and family history. It is an inevitable fact that majority of chromosomal abnormalities arise spontaneously and are not treatable. Much attention has not been devoted to the study of chromosomal abnormalities in order to better understand the pathogenesis and rising prevalence of various clinical conditions. This chapter will address the relationship of chromosomal abnormalities in various conditions with the goal of increasing awareness of causes and furthering diagnosis, management/treatment, counseling, and prevention options. Furthermore, preimplantation and prenatal testing can be planned from the laboratory bench to the clinical bedside using sophisticated molecular techniques.

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“…The most prevalent structural chromosomal abnormality observed in infertile males is significant deletions of the long arm of Y chromosome and robertsonian translocation. Y-chromosome microdeletion (YMD), occurring at a rate of 1% to 50%, is the second most common genetic cause of azoospermia which is closely linked to male infertility ( 2 , 5 ). Other than structural chromosomal aberrations and YMD, numerical sex chromosome anomalies like 47, XXY and the mosaic 45,X/46,XY karyotype are frequent sex chromosome defects in infertile males ( 6 ).…”

Section: Introductionmentioning

confidence: 99%

A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion

Kumar Patel,

Kabir,

Nayak

et al. 2023

JRI

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Background: Males with 45,X/46,XY karyotype have two different types of cells. This condition is associated with a wide range of clinical phenotypes. In infertile males, the mosaic 45,X/46,XY karyotype is a frequent sex chromosome defect and they might be able to conceive with the help of assisted reproductive technology; nevertheless, there is a potential risk of transmission of azoospermia factor (AZF) microdeletions in addition to 45,X to all the male progeny. In this case report, the purpose was to present a rare sex chromosomal mosaicism of an infertile man. Case Presentation: Comprehensive molecular and cytogenetic analysis of an infertile male was performed in this case study. A 27-year-old male was presented with history of azoospermia and was unable to conceive after being involved in five years of marriage. Cytogenetic investigation revealed a rare mosaic karyotype pattern of 45,X/46,X,del(Y)(q12→qter). Y chromosome microdeletion (YMD) analysis revealed notable deletions of 06 loci. Comparative genomic hybridization (CGH) microarray was performed to investigate probable functional genetic associations. Conclusion: Deletion of Y-linked genes leads to different testicular pathological conditions contributing to male infertility. Individuals with normal male phenotype harbor YMD, although size and location of the deletion do not always correspond well with quality of sperm. Therefore, in addition to semen analysis, identification of genetic variables is important which will play a crucial role in proper diagnosis and management of infertile couples. The present case study demonstrates the significance of comprehensive molecular testing and cytogenetic screening for individuals with idiopathic infertility.

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A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report

Cited by 4 publications

References 20 publications

Association between chromosome 22q11.2 translocation and male oligozoospermia

Association between chromosome 22q11.2 translocation and male oligozoospermia

Background, Diagnosis, Types, Management/Prevention and Implications of Chromosomal Abnormalities

A Rare Case of 45,X/46,X,del(Y)(q12→qter) Mosaicism in An Infertile Male with Y Chromosome Microdeletion

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