Abstract:
: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 (P<0.0001), whereas testosterone levels were significantly decreased in men with microdeletions as compared to men with no microdeletions (P<0.0083). Low levels of androgen in men with microdeletions indicate a need to follow-up for early andropause. Patients with microdeletions had more severe testicular histology as compared to subjects without deletions. Our studies showed a significant decrease (P<0.002) 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.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Abid S,Maitra A,Meherji P,Patel Z,Kadam S,Shah J,Shah R,Kulkarni V,Baburao V,Gokral Jdoi
10.1002/jcla.20216subject
Has Abstractpub_date
2008-01-01 00:00:00pages
29-38issue
1eissn
0887-8013issn
1098-2825journal_volume
22pub_type
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.20214
更新日期:2008-01-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2825(1996)10:1<1::AID-JCLA1>3.0
更新日期:1996-01-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
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更新日期:2014-01-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22427
更新日期:2018-07-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.22223
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journal_title:Journal of clinical laboratory analysis
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pub_type: 杂志文章
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/jcla.21698
更新日期:2014-09-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
doi:10.1002/1098-2825(2001)15:1<25::aid-jcla5>3.0.co;2
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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pub_type: 杂志文章
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