Chromosomal Aberrations and Male Infertility

Abramsson, Leif; Beckman, G.; Duchek, M.; Nordenson, Ingrid

doi:10.1016/s0022-5347(17)52752-4

Cited by 39 publications

(13 citation statements)

References 7 publications

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“…Probability of detecting a chromosomal rearrangements in a patient's karyotype is negatively correlated to the sperm concentration [14][15][16][17]. Indeed, in this study, we observed lowered sperm concentration in the RT carrier group, but not in the RCT group in comparison to the control subjects.…”

Section: Discussionmentioning

confidence: 40%

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Pastuszek¹,

Kiewisz²,

Kulwikowska³

et al. 2016

Folia Histochem Cytobiol.

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Introduction. Somatic chromosomal rearrangements that occur in infertile males are thought to be one of the major genetic factors influencing male infertility. The objective of this retrospective study was to evaluate sperm parameters in a group of patients with balanced translocations. Material and methods. We analyzed semen of 84 balanced somatic translocation carriers [35 Robertsonian translocation (RT group) and 49 reciprocal translocation (RCT group)] and 57 men with normal karyotype (control group). Semen samples were evaluated for sperm concentration, its motion parameters and vitality, round cell number (CASA) and DNA fragmentation index (TUNEL). Cytogenetic evaluation was also performed for each study participant. Results. Sperm concentrations were lower when comparing the RT group to the control (p < 0.001) and RCT groups (p < 0.05). Occurrence of abnormal sperm concentration was more common among RT carriers (74.3%) than in the other groups (42.9% in RCT group and 28.1% in control group). The sperm progressive motility and vitality in RT carriers (21.53% and 62.17%) were lower than in control group (39.77% and 77.47%, p < 0.001, respectively) and RCT carriers (31.47% and 76.17%, p < 0.001, respectively). The RCT carriers and the control group did not differ in regard to sperm concentration, progressive sperm motility, motility grade D and sperm vitality. There were no significant differences in DNA fragmentation in carriers of both studied structural chromosomal rearrangements in comparison to subjects with normal karyotype. Conclusions. RT carriers had significantly lower semen parameters in comparison to not only the subjects with normal karyotypes but also the RCT carriers.

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Section: Discussionmentioning

confidence: 40%

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Pastuszek¹,

Kiewisz²,

Kulwikowska³

et al. 2016

Folia Histochem Cytobiol.

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“…The prevalence of chromosome abnormalities is higher in infertile men and it is well-known that the sperm count is inversely related to the existence of chromosomal anomaly. The first study, emphasizing the relation between some chromosomal abnormalities and male infertility, included 6982 cases, and the frequency of chromosomal abnormality was reported as 5.3% [19]. The frequency in whole population was given as 0.6%.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Koşar

Özçelik

Koşar

2010

J Assist Reprod Genet

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Purpose To find the frequency and types of major chromosomal abnormalities with nonobstructive azoospermia and severe oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in Isparta (South of Turkey), and to investigate the general characteristics in this infertile male population. Methods and patients A total of 115 infertile males (92 were azoospermic, 23 severe oligospermic) were studied for the cytogenetic evaluation prior to use of assisted reproduction techniques. Also, 60 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Levels of luteinising hormone, follicle-stimulating hormone (FSH), testosterone and prolactin were obtained and a testicular sonography examination was conducted. Results The total prevalence of chromosomal abnormalities was found to be 4.3% (5/115), including 4 patients with Klinefelter's Syndrome and 1 patient with gonadal dysygenesis (46XX). All of them were azoospermic males, corresponding to a frequency of 5.4% (5/92 patients). Oligozoospermic males and control males had no chromosomal abnormalities. There was a significant difference in serum FSH, LH, mean testicular volume and smoking when comparing patients (both azoospermic and oligozoospermic) and control groups (p<0.05). Also, there was a significant difference in serum FSH, LH and mean testicular volume when compared with azoospermic and oligozoospermic patients (p<0.05) Conclusions The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

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“…There was no apparent rela tionship between chromosomal breakage and abnormal sperm parameters; how ever, the figures were small [Abramsson et al, 1982], It is of interest to test the role of in duced chromosomal damage in sperma togenesis. Since chromosome analysis of spermatozoa is difficult to perform, we have chosen to investigate the possibility of a correlation between the frequency of chromosomal breakage in peripheral lym phocytes and some sperm parameters.…”

Section: Introductionmentioning

confidence: 99%

Somatic Chromosomal Aberrations and Male Infertility

Nordenson¹,

Abramsson²,

Duchek³

1984

Hum Hered

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A significant correlation was found between the frequency of chromosomally aberrant peripheral lymphocytes and a low frequency of morphologically normal spermatozoas in men. No correlation was found between increased chromosomal breakage, other sperm parameters and density, motility or agglutination of spermatozoa. Smokers had significantly more cells with aberrations than nonsmokers. The significance of induced lesions in peripheral lymphocytes and their relationship to reproduction was discussed.

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Chromosomal Aberrations and Male Infertility

Cited by 39 publications

References 7 publications

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Somatic Chromosomal Aberrations and Male Infertility

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