The association between sperm sex chromosome disomy and semen concentration, motility and morphology

Details

• Personal Author:
  Dadd R ; Korrick SA ; McAuliffe ME ; Perry MJ ; Williams PL
• Description:
  STUDY QUESTION: Is there an association between sex chromosome disomy and semen concentration, motility and morphology? SUMMARY ANSWER: Higher rates of XY disomy were associated with a significant increase in abnormal semen parameters, particularly low semen concentration. WHAT IS KNOWN ALREADY: Although some prior studies have shown associations between sperm chromosomal abnormalities and reduced semen quality, results of others are inconsistent. Definitive findings have been limited by small sample sizes and lack of adjustment for potential confounders. STUDY DESIGN, SIZE AND DURATION: Cross-sectional study of men from subfertile couples presenting at the Massachusetts General Hospital Fertility Clinic from January 2000 to May 2003. PARTICIPANTS/MATERIALS, SETTING, METHODS: With a sample of 192 men, multiprobe fluorescence in situ hybridization for chromosomes X, Y and 18 was used to determine XX, YY, XY and total sex chromosome disomy in sperm nuclei. Sperm concentration and motility were measured using computer-assisted sperm analysis; morphology was scored using strict criteria. Logistic regression models were used to evaluate the odds of abnormal semen parameters [as defined by World Health Organization (WHO)] as a function of sperm sex chromosome disomy. MAIN RESULTS AND THE ROLE OF CHANCE: The median percentage disomy was 0.3 for XX and YY, 0.9 for XY and 1.6 for total sex chromosome disomy. Men who had abnormalities in all three semen parameters had significantly higher median rates of XX, XY and total sex chromosome disomy than controls with normal semen parameters (0.43 versus 0.25%, 1.36 versus 0.87% and 2.37 versus 1.52%, respectively, all P< 0.05). In logistic regression models, each 0.1% increase in XY disomy was associated with a 7% increase (odds ratio: 1.07, 95% confidence interval: 1.02-1.13) in the odds of having below normal semen concentration (<20 million/ml) after adjustment for age, smoking status and abstinence time. Increases in XX, YY and total sex chromosome disomy were not associated with an increase in the odds of a man having abnormal semen parameters. In addition, autosomal chromosome disomy (1818) was not associated with abnormal semen parameters. LIMITATIONS, REASONS FOR CAUTION: A potential limitation of this study, as well as those currently in the published literature, is that it is cross-sectional. Cross-sectional analyses by nature do not lend themselves to inference about directionality for any observed associations; therefore, we cannot determine which variable is the cause and which one is the effect. Additionally, the use of WHO cutoff criteria for dichotomizing semen parameters may not fully define fertility status; however, in this study, fertility status was not an outcome we were attempting to assess. WIDER IMPLICATIONS OF THE FINDINGS: This is the largest study to date seeking to understand the association between sperm sex chromosome disomy and semen parameters, and the first to use multivariate modeling to understand this relationship. The findings are similar to those in the published literature and highlight the need for mechanistic studies to better characterize the interrelationships between sex chromosome disomy and standard indices of sperm health. [Description provided by NIOSH]
• Subjects:
  Age Factors Chromosomes Genetics Men Occupational Health Pathology Safety Sex Characteristics Smokers Spermatogenesis Tobacco Products Urogenital Diseases Urogenital System Women

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• Keywords:
  Age-factors Analytical-models Author Keywords: Aneuploidy Cell-damage Cell-morphology Chromosome-damage Chromosome-disorders Cigarette-smoking Fertility Fluorescence In Situ Hybridization Gene-mutation Genes Humans Infertility Mathematical-models Morphology Physiological-factors Reproduction Reproductive-system Reproductive-system-disorders Semen Parameters Sex-factors Sex Chromosome Sexual-reproduction Smoking Spermatozoa

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• ISSN:
  0268-1161
• Document Type:
  Text
• Funding:
  Grant
• Genre:
  Journal Article
• Place as Subject:
  District of Columbia ; Massachusetts ; OSHA Region 1 ; OSHA Region 3
• CIO:
  National Institute for Occupational Safety and Health (NIOSH)
• Topic:
  Workplace Safety & Health
• Location:
  North America
• Volume:
  27
• Issue:
  10
• NIOSHTIC Number:
  nn:20042198
• Citation:
  Hum Reprod 2012 Oct; 27(10):2918-2926
• Contact Point Address:
  M.J. Perry, Department of Environmental and Occupational Health, George Washington University School of Public Health and Health Services, 2100 M Street NW, Suite 203, Washington, DC 20037 USA
• Email:
  melissa.perry@gwumc.edu
• Federal Fiscal Year:
  2013
• Performing Organization:
  Harvard School of Public Health
• Peer Reviewed:
  True
• Start Date:
  20050701
• Source Full Name:
  Human Reproduction
• End Date:
  20280630
• Collection(s):
  National Institute for Occupational Safety and Health
• Main Document Checksum:
  urn:sha-512:9a2f0607bb2b09ec7e245133c5b180c9294397c888c129faf35cb0fab09d593b5b385007e716e1924d1772743ef13cffabb36dd3cc55fa8fdbf9cd5129683b93
• Download URL:
  https://stacks.cdc.gov/view/cdc/194498/cdc_194498_DS1.pdf
• File Type:
  [PDF - 245.76 KB ]