Environmental and Genetic Contributors to Hypospadias: A Review of the Epidemiologic Evidence

Details

• Alternative Title:
  Birth Defects Res A Clin Mol Teratol
• Personal Author:
  Carmichael, Suzan L. ; Shaw, Gary M. ; Lammer, Edward J.
• Description:
  This review evaluates current knowledge related to trends in the prevalence of hypospadias, the association of hypospadias with endocrine-disrupting exposures, and the potential contribution of genetic susceptibility to its etiology. The review focuses on epidemiologic evidence. Increasing prevalence of hypospadias has been observed, but such increases tend to be localized to specific regions or time periods. Thus, generalized statements that hypospadias is increasing are unsupported. Owing to the limitations of study designs and inconsistent results, firm conclusions cannot be made regarding the association of endocrine-disrupting exposures with hypospadias. Studies with more rigorous study designs (e.g., larger and more detailed phenotypes) and exposure assessment that encompasses more breadth and depth (e.g., specific endocrine-related chemicals) will be critical to make better inferences about these important environmental exposures. Many candidate genes for hypospadias have been identified, but few of them have been examined to an extent that enables solid conclusions. Further study is needed that includes larger sample sizes, comparison groups that are more representative of the populations from which the cases were derived, phenotype-specific analyses, and more extensive exploration of variants. In conclusion, examining the associations of environmental and genetic factors with hypospadias remain important areas of inquiry, although our actual understanding of their contribution to hypospadias risk in humans is currently limited.
• Keywords:
  3-Oxo-5-alpha-Steroid 4-Dehydrogenase Endocrine Disruptors Environment Environmental Exposure Environmental Pollutants Gene-Environment Interaction Genes Genetic Predisposition To Disease Humans Hypospadias Male Membrane Proteins Phenotype Prevalence Risk Factors Urogenital

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• Source:
  Birth Defects Res A Clin Mol Teratol. 94(7):499-510
• Pubmed ID:
  22678668
• Pubmed Central ID:
  PMC3393839
• Document Type:
  Journal Article
• Funding:
  R01 ES017060/ES/NIEHS NIH HHSUnited States/ ; U01 DD000489/DD/NCBDD CDC HHSUnited States/ ; R01ES017060/ES/NIEHS NIH HHSUnited States/ ; 6U01DD000489/DD/NCBDD CDC HHSUnited States/
• Volume:
  94
• Issue:
  7
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:9145d4b51eb04fcfd8fb47a60dfd66f667a702dafd2544694279bd1eb6442252
• Download URL:
  https://stacks.cdc.gov/view/cdc/33398/cdc_33398_DS1.pdf
• File Type:
  [PDF - 327.38 KB ]