Chromosomal disorders and male infertility

Harton, G.; Tempest, Helen G.

doi:10.1038/aja.2011.66

Cited by 148 publications

(139 citation statements)

References 119 publications

(133 reference statements)

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“…Chromosomal aberrations have been postulated to be one of the major genetic factors responsible for occurrences of male infertility [5,6]. Somatic chromosomal rearrangements are found in infertile men approximately 10 times more often than in the general population [7].…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Pastuszek¹,

Kiewisz²,

Kulwikowska³

et al. 2016

Folia Histochem Cytobiol.

View full text Add to dashboard Cite

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“…Although some specific mutations have been identified, other factors responsible for the sperm defects remain unknown. Known genetic causes of male infertility make up approximately 30 % of infertility cases [4,14,15]. The causes of approximately 50 % of male factor infertility cases are still unexplained [4,16].…”

Section: Introductionmentioning

confidence: 99%

The role of epigenetics in idiopathic male infertility

Güneş

Arslan

Hekim

et al. 2016

J Assist Reprod Genet

106

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Infertility is a complex disorder with multiple genetic and environmental causes. Although some specific mutations have been identified, other factors responsible for sperm defects remain largely unknown. Despite considerable efforts to identify the pathophysiology of the disease, we cannot explain the underlying mechanisms of approximately half of infertility cases. This study reviews current data on epigenetic regulation and idiopathic male infertility. Recent data have shown an association between epigenetic modifications and idiopathic infertility. In this regard, epigenetics has emerged as one of the promising research areas in understanding male infertility. Many studies have indicated that epigenetic modifications, including DNA methylation in imprinted and developmental genes, histone tail modifications and short non-coding RNAs in spermatozoa may have a role in idiopathic male infertility.

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“…The chromosomal abnormality is associated with male infertility which includes both numerical (Klinefelter syndrome) and structural (translocations and inversions) chromosomal aberrations (Harton & Tempest, 2012). Other genetic factors involved may be endocrine disorders of genetic origin, imprinting disorders, mitochondrial DNA (mtDNA) mutations, multifactorial disorders as well as Y chromosome deletions.…”

Section: Genetic Damagementioning

confidence: 99%

Pesticide Exposures Induce Male-Mediated Reproductive Toxicity: A Review

Yusoff¹,

Budin²,

Taib³

2017

JAS

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Infertility remains a continuing globally problem wherever couples worldwide were infertile as much as 42 million in 1990 and keep projecting to 48.5 million in 2010. Male-mediated infertility becomes one of the numerous concerns due to pesticide especially sperm quality as revealed with raising number of animal and human studies in latter-day among researchers. Pesticides have been used since the early days as pest control in agriculture, as vector controls in malaria and dengue as well as subject to much regulation. The reproductive system might be affected with some negative effects from pesticides that lead to interference with the male hormonal function. Polyunsaturated fatty acid (PUFA) content in the sperm cell membrane makes it become highly susceptible towards reactive oxygen species (ROS), thus leading to sperm damage. Besides known genetic and environmental factors, research during the last two decades has highlight on several mechanisms and their association with male infertility. The male germ line undergoes extensive epigenetic modifications throughout fetal to adult life hence vulnerable to environmental factors that may influence fertility. The present literature will help in understanding the mechanisms of pesticide in inducing male-mediated reproductive toxicity.

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Chromosomal disorders and male infertility

Cited by 148 publications

References 119 publications

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

The role of epigenetics in idiopathic male infertility

Pesticide Exposures Induce Male-Mediated Reproductive Toxicity: A Review

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