Y chromosome and male infertility

Krausz, Csilla

doi:10.1111/j.1439-0272.2005.00693.x

Cited by 49 publications

(52 citation statements)

References 35 publications

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“…Approximately 50% of these are accountable to the male partner. In more than 60% of these cases the origin of reduced testicular function is unknown (10). In recent years, genetic factors have been found to be involved in about 10% of the cases with male infertility (11).…”

Section: Discussionmentioning

confidence: 99%

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Abid

Maitra

Meherji

et al. 2008

Clinical Laboratory Analysis

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The genetic basis of infertility has received increasing recognition in recent years, particularly with the advent of assisted reproductive technology. It is now becoming obvious that genetic etiology for infertility is an important cause of disrupted spermatogenesis. Y-chromosome microdeletions and abnormal karyotype are the two major causes of altered spermatogenesis. To achieve biological fatherhood, intracytoplasmic sperm injection (ICSI) is performed in cases of severe infertility with or without genetic abnormalities. There is a concern that these genetic abnormalities can be transmitted to the male progeny, who may subsequently have a more severe phenotype of infertility. A total of 200 men were recruited for clinical examinations, spermiograms, hormonal profiles, and cytogenetic and Yq microdeletion profiles. Testicular biopsy was also performed whenever possible and histologically evaluated. Genetic abnormalities were seen in 7.1% of cases, of which 4.1% had chromosomal aberrations, namely Klinefelter's mosaic (47XXY) and Robertsonian translocation, and 3.0% had Yq microdeletions, which is very low as compared to other populations. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased in men with nonobstructive azoospermia (NOA) as compared to severe oligoasthenozoospermia (Po0.0001), whereas testosterone levels were significantly decreased in men with microdeletions as compared to men with no microdeletions (Po0.0083). Low levels of androgen in men with microdeletions indicate a need to followup for early andropause. Patients with microdeletions had more severe testicular histology as compared to subjects without deletions. Our studies showed a significant decrease (Po0.002) in the serum inhibin B values in men with NOA, whereas FSH was seen to be significantly higher as compared to men with severe oligoasthenozoospermia (SOAS), indicating that both the Sertoli cells as well the germ cells were significantly compromised in cases of NOA and partially affected in SOAS. Overall inhibin B in combination with serum FSH would thus be a better marker than serum FSH alone for impaired spermatogenesis. In view of the genetic and hormonal abnormalities in the group of infertile men with idiopathic severe oligozoospermia and NOA cases, who are potential candidates for ICSI, genetic testing for Y-chromosome microdeletions, karyotype, and biochemical parameters is advocated.

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Section: Discussionmentioning

confidence: 99%

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Abid

Maitra

Meherji

et al. 2008

Clinical Laboratory Analysis

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“…7 Three regions on the q-arm of the Y chromosome have been referred to as 'azoospermia factors' (AZFa, AZFb and AZFc proximal to distal respectively), which have been defined as spermatogenesis loci. 8 In addition, the regions involved in the deletion can offer valuable prognostic information (reviewed by Krausz et al [9][10][11] ). In brief, microdeletion of the entire AZFa or AZFb regions of the Y chromosome portends an exceptionally poor prognosis for sperm retrieval, whereas the majority of men with AZFc deletions have sperm available either within their semen or retrievable from their testes for use in assisted reproductive technologies.…”

Section: Known Genetic Factors Associated With Male Factor Infertilitymentioning

confidence: 99%

Meiotic recombination and male infertility: from basic science to clinical reality?

Hann¹,

Lau²,

Tempest³

2011

Asian J Androl

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Infertility is a common problem that affects approximately 15% of the population. Although many advances have been made in the treatment of infertility, the molecular and genetic causes of male infertility remain largely elusive. This review will present a summary of our current knowledge on the genetic origin of male infertility and the key events of male meiosis. It focuses on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur, specifically meiotic arrest and chromosome aneuploidy, the leading cause of pregnancy loss in humans. In addition, meiosis-specific candidate genes will be discussed, including a discussion on why we have been largely unsuccessful at identifying disease-causing mutations in infertile men. Finally clinical applications of sperm aneuploidy screening will be touched upon along with future prospective clinical tests to better characterize male infertility in a move towards personalized medicine.

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“…Genetic abnormalities leading to male infertility are responsible for 15 to 30 % of cases, with a prevalence of Y chromosome abnormalities [14,15]. Whereas many other genetic abnormalities that cause male infertility are still unknown, it is likely that most cases of idiopathic infertility could be accounted for by underlying genetic causes [16].…”

Section: Introductionmentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

109

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Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

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Y chromosome and male infertility

Cited by 49 publications

References 35 publications

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India

Meiotic recombination and male infertility: from basic science to clinical reality?

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

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