The prevalence of chromosomal abnormalities in subgroups of infertile men

Dul, E. C.; Groen, Henk; Ravenswaaij-Arts, van Conny; Dijkhuizen, Trijntje; Echten-Arends, Jannie van; Land, Jolande

doi:10.1093/humrep/der374

Cited by 28 publications

(18 citation statements)

References 30 publications

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“…Chromosomal abnormalities detected in the present study are comparable with those reported in other studies of infertile men: gonosomal abnormalities were mainly detected in men with azoospermia, while autosomal aberrations were mainly reported in nonazoospermic men [10,[25][26][27]. We observed a strong and statistically significant association of numerical chromosomal abnormalities with azoospermia (P = 0.0001).…”

Section: Discussionsupporting

confidence: 89%

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Pylyp

Spinenko²,

Verhoglyad³

et al. 2013

J Assist Reprod Genet

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Purpose To assess the frequency and types of chromosomal abnormalities in 204 Ukrainian patients with non-obstructive azoospermia and oligozoospermia and 87 men with normozoospermia. Methods Cytogenetic studies were performed on peripheral blood lymphocyte samples of 164 men with oligozoospermia, 40 men with non-obstructive azoospermia and 87 men with normozoospermia attending infertility clinic. Results Chromosomal abnormalities were detected in 17 % of patients with sperm disorders: in 35 % of men with azoospermia and in 12.7 % of men with oligozoospermia. The frequency of chromosomal abnormalities in patients with sperm disorders was significantly higher, than in patients with normozoospermia (P=0.0001). An increase in the incidence of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected in 1.1 % of patients with normozoospermia, 6.5 % of patients with mild oligozoospermia (sperm count 5-15 ×10 6 /ml), 18.4 % of patients with severe oligozoospermia (sperm count <5 ×10 6 /ml) and 35 % of patients with azoospermia. A significant increase in the frequency of chromosomal abnormalities in patients with severe oligozoospermia was observed when compared to mild oligozoospermia (P=0.01). A statistically significant association (P= 0.02) of chromosomal abnormalities and sex chromosome abnormalities (P=0.0001) with azoospermia when compared to oligozoospermia was observed. Conclusions Our results highlight the importance of cytogenetic studies in patients with oligozoospermia (both mild and severe) and non-obstructive azoospermia. The presence of chromosomal abnormalities influences significantly the fertility treatment protocols, as well as provides a definite diagnosis to couples suffering from infertility.

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Section: Discussionsupporting

confidence: 89%

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Pylyp

Spinenko²,

Verhoglyad³

et al. 2013

J Assist Reprod Genet

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“…At the same time, most aberrations are found in azoospermic and severely oligozoospermic men [9] what is partially in agreement with the results of our study. However, other authors did observe such high correlation in subgroups of infertile men [26,27].…”

Section: Sperm Motility (%)mentioning

confidence: 77%

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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“…For instance, the frequency of chromosomal abnormalities in subgroup of patients with habitual noncarrying of pregnancy (more than two miscar riages) ranges from 3.5% [20] to 5.6% [21], while in the subgroup of women with primary infertility and non aggravated obstetric history it is 0.58% only [22]. The prevalence of chromosomal abnormalities in men with disruptive spermatogenesis increases with the sperm count decrease: from 6-18% in groups of patients with severe oligozoospermia to 17-35% in patients with azoospermia [3,23]. Consequently, the frequency of chromosomal abnormalities in the stud ied group (2.37%) is representative of the frequency of chromosomal abnormalities in the general group of infertile patients seeking infertility treatment.…”

Section: Resultsmentioning

confidence: 99%

“…Theoretical and practical experience of ART departments has proven that chro mosomal abnormalities are more frequent in groups of infertile patients than in general population. For example, the prevalence of chromosomal abnormali ties among patients with infertility depends on charac teristics of the studied group and may vary from 1.05 to 17% [3][4][5][6], while it comprises only 0.84% in the group of newborns [7]. Apart from reduced reproductive potential, carriers of chromosomal abnormalities have an increased risk of pregnancy with the chromosoma lly unbalanced fetus, miscarriage or livebirth of a child with abnormal karyotype.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal abnormalities in patients with infertility

et al. 2015

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The results of cytogenetic studies of 3414 patients with infertility (1741 women and 1673 men) were analyzed retrospectively to estimate the frequency and types of chromosomal abnormalities in infertile patients. Chromosomal abnormalities were detected in 2.37% of cases (81/3414), corresponding to an abnor mality frequency of 2.79% among men and 1.95% among women. Balanced structural chromosomal rear rangements were predominant in the studied group, constituting 80.2% of all chromosomal abnormalities. Gonosomal abnormalities comprised 23.5% of the detected chromosomal pathology (19/81) and were pre sented by gonosomal aneuploidies in 84% of cases (16/19) and structural rearrangements of chromosome Y in 16% of cases (3/19). The frequency of sex chromosome low level mosaicism was 0.55%. Our results high light the importance of cytogenetic studies in patients with infertility before the start of infertility treatment programs with assisted reproduction techniques, since the detection of chromosomal abnormalities makes it possible to identify infertility etiology as well as change the treatment approaches.

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The prevalence of chromosomal abnormalities in subgroups of infertile men

Abstract: We show that the highest prevalence of chromosomal abnormalities is found in hypergonadotrophic azoospermic men with an uneventful andrologic history.

Cited by 28 publications

References 30 publications

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Chromosomal abnormalities in patients with infertility

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