Chromosomal Abnormalities in Infertile Men from Southern India

Suganya, Jaganathan; Kujur, Smita B.; Selvaraj, Kamala; Suruli, Muthiah S.; Haripriya, Geetha; Samuel, Chandra R

doi:10.7860/jcdr/2015/14429.6247

Cited by 26 publications

(26 citation statements)

References 36 publications

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“…Suganya et al . reported that male infertility may be caused by genetic abnormalities, varicocele, cryptorchidism, spermatic duct obstruction, urogenital tract infections, antisperm antibodies, endocrine disturbances, testicular malignancy, and environmental factors [ 67 ].…”

Section: Genetic Disorders Related To Y-chromosomal Anomaliesmentioning

confidence: 99%

Y-chromosomal genes affecting male fertility: A review

2016

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The mammalian sex-chromosomes (X and Y) have evolved from autosomes and are involved in sex determination and reproductive traits. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and 200 genes. The Y-chromosome plays major role in male fertility and is suitable to study the evolutionary relics, speciation, and male infertility and/or subfertility due to its unique features such as long non-recombining region, abundance of repetitive sequences, and holandric inheritance pattern. During evolution, many holandric genes were deleted. The current review discusses the mammalian holandric genes and their functions. The commonly encountered infertility and/or subfertility problems due to point or gross mutation (deletion) of the Y-chromosomal genes have also been discussed. For example, loss or microdeletion of sex-determining region, Y-linked gene results in XY males that exhibit female characteristics, deletion of RNA binding motif, Y-encoded in azoospermic factor b region results in the arrest of spermatogenesis at meiosis. The holandric genes have been covered for associating the mutations with male factor infertility.

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Section: Genetic Disorders Related To Y-chromosomal Anomaliesmentioning

confidence: 99%

Y-chromosomal genes affecting male fertility: A review

2016

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“…Since structural chromosomal aberrations are up to 10 times more common in infertile men than in fertile controls, karyotypes are important in the work-up of infertile men (5). Structural chromosomal abnormalities in men can lead to abnormal sperm concentrations while leading to male infertility or increasing miscarriages (6,7). Reciprocal translocations are mainly structural chromosomal abnormalities, the carriers of which can be phenotypically normal but may experience reduced fertility and spontaneous abortions (8).…”

Section: Introductionmentioning

confidence: 99%

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Zhang¹,

Li²,

Zhu³

et al. 2018

Turk J Med Sci

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Background/aim: This study aimed to explore the breakpoints in chromosome 3 translocation and the clinical features present in male carriers to enable informed genetic counseling of these patients. Materials and methods: A total of 5235 men who were infertile or receiving counseling for infertility were recruited. Cytogenetic analyses were performed using G-banding. A search for translocations on chromosome 3 involved in male infertility was performed using PubMed, Google Scholar, and CNKI. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were also analyzed. Results: Among the 82 patients with balanced reciprocal translocations among 5235 male patients, 12 patients were carriers of chromosome 3 translocation: two presented with pregestational infertility, while 10 presented with gestational infertility. The breakpoint at 3p13 was related to pregestational infertility, whereas those at 3p23, 3q10, 3q12, 3q21, 3q25, and 3q29 were related to gestational infertility. By an analysis combining data from the literature, 63 carriers of chromosome 3 translocation were reviewed and all breakpoints at chromosome 3 were correlated with gestational infertility. Conclusion: All breakpoints at chromosome 3 were correlated with gestational infertility. The breakpoints at 3q12 and 3q29 were the most common. Carriers of chromosome 3 translocation should thus be counseled on the need for other chromosomal breakpoints and preimplantation genetic diagnosis or prenatal testing.

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“…Male infertility could be caused by a variety of factors, such as endocrine disorders, spermatic duct obstruction, antisperm antibodies, cryptorchidism, testicular trauma and so on (Zhang et al., ). Nonobstructive azoospermia (NOA), an infrequent cause of male infertility, remains unexplained and is often considered to be idiopathic male infertility (Suganya et al., ). Data and evidence has arisen that NOA is associated with genetic aberrant such as chromosomal alterations and/or Y chromosome fragment microdeletions (Tabassum Siddiqui, Mujtaba, & Naz, ).…”

Section: Introductionmentioning

confidence: 99%

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

Liu

Gao

et al. 2016

Andrologia

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To investigate the frequency and types of genetic results in different testicular histology of patients with nonobstructive azoospermia (NOA), and correlated with hormones and sperm retrieval (SR), a retrospective study was conducted in 286 Chinese NOA patients who underwent testis biopsy and 100 age-matched fertile men as the control group. Chromosome karyotype analyses were performed by the peripheral blood chromosome G-band detection method. Screening of Y chromosome microdeletions of azoospermia factor (AZF) region was performed by polymerase chain reaction (PCR) amplification of 11 sequence-tagged sites (STS). The serum levels of follicle-stimulating hormone, luteinising hormone and testosterone (T) and the appearance of scrotal ultrasound were also obtained. In 286 cases of NOA, 14.3% were found to have chromosomal alterations. The incidence of chromosomal abnormality was 2.8%. Sex chromosomal abnormalities were seen in six cases (four cases of Klinefelter's syndrome (47, XXY) and two cases of mosaics). The incidence of polymorphic chromosomal variants was 3% in the normal group and 11.5% in the NOA group. In total, 15.7% of NOA patients were found to have AZF microdeletions and AZF (c + d) was the most frequent one. The results of hormone and SR were found to be significantly different among all testicular histological types, whereas no significant differences were found when it comes to genetic alterations. It is concluded that the rate of cytogenetic alterations was high in NOA patients. So screening for chromosomal alterations and AZF microdeletions would add useful information for genetic counselling in NOA patients with testis biopsy and avoid vertical transmission of genetic defects by assisted reproductive technology.

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Chromosomal Abnormalities in Infertile Men from Southern India

Cited by 26 publications

References 36 publications

Y-chromosomal genes affecting male fertility: A review

Y-chromosomal genes affecting male fertility: A review

Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

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