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Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.

ABSTRACT: 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.

SUBMITTER: Carmichael SL

PROVIDER: S-EPMC3393839 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.

Carmichael Suzan L SL Shaw Gary M GM Lammer Edward J EJ

Birth defects research. Part A, Clinical and molecular teratology 20120608 7

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 t ...[more]

PMID: 22678668

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Project description:BackgroundThe burden of non-communicable diseases (NCDs) in sub-Saharan Africa (SSA) is increasing. Environmental conditions such as heavy metals and air pollution have been linked with the incidence and mortality of chronic diseases such as cancer, as well as cardiovascular and respiratory diseases. We aimed to scope the current state of evidence on the impact of environmental conditions on NCDs in SSA.MethodsWe conducted a scoping review to identify environmental conditions linked with NCDs in SSA by identifying studies published from January 1986 through February 2023. We searched African Index Medicus, Ovid Medline, Scopus, Web of Science, and Greenfile. Using the PICOS study selection criteria, we identified studies conducted in SSA focussed on physical environmental exposures and incidence, prevalence, and mortality of NCDs. We included only epidemiologic or quantitative studies.ResultsWe identified 6754 articles from electronic database searches; only 36 met our inclusion criteria and were qualitatively synthesised. Two studies were conducted in multiple SSA countries, while 34 were conducted across ten countries in SSA. Air pollution (58.3%) was the most common type of environmental exposure reported, followed by exposure to dust (19.4%), meteorological variables (13.8%), heavy metals (2.7%), soil radioactivity (2.7%), and neighbourhood greenness (2.7%). The examined NCDs included respiratory diseases (69.4%), cancer (2.7%), stroke (5.5%), diabetes (2.7%), and two or more chronic diseases (19.4%). The study results suggest an association between environmental exposures and NCDs, particularly for respiratory diseases. Only seven studies found a null association between environmental conditions and chronic diseases.ConclusionsThere is a growing body of research on environmental conditions and chronic diseases in the SSA region. Although some cities in SSA have started implementing environmental monitoring and control measures, there remain high levels of environmental pollution. Investment can focus on improving environmental control measures and disease surveillance.

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Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.

Publications

Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.

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