Document Detail


Molecular epidemiology of hypospadias: review of genetic and environmental risk factors.
MedLine Citation:
PMID:  14745936     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hypospadias is one of the most common congenital anomalies in the United States, occurring in approximately 1 in 125 live male births. It is characterized by altered development of the urethra, foreskin, and ventral surface of the penis. In this review, the embryology, epidemiology, risk factors, genetic predisposition, and likely candidate genes for hypospadias are described. Recent reports have identified increases in the birth prevalence of mild and severe forms of hypospadias in the United States from the 1960s to the present. Studies in consanguineous families and small case series have identified allelic variants in genes controlling androgen action and metabolism that cause hypospadias, but the relevance of these findings to the general population is unknown. Concern has also focused on whether exposure to endocrine disrupting chemicals (EDC) with antiandrogenic activity is the cause of this increase. Hypospadias is believed to have a multifactorial etiology in which allelic variants in genes controlling androgen action and metabolism predispose individuals to develop this condition. When genetic susceptibility is combined with exposure to antiandrogenic agents, a threshold is surpassed, resulting in the manifestation of this birth defect. A clear role for exposure to antiandrogenic environmental chemicals has yet to be established in the etiology of hypospadias, although results from laboratory animal models indicate that a number of environmental chemicals could be implicated. Molecular epidemiology studies that simultaneously examine the roles of allelic variants in genes controlling androgen action and metabolism, and environmental exposures are needed to elucidate the risk factors for these anomalies and the causes of the increased rate of hypospadias.
Authors:
Jeanne M Manson; Michael C Carr
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  67     ISSN:  1542-0752     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2004-01-27     Completed Date:  2004-06-21     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  825-36     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. jmanson@earthlink.net
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MeSH Terms
Descriptor/Qualifier:
Genetic Predisposition to Disease*
Hazardous Substances / adverse effects*
Humans
Hypospadias / epidemiology*,  genetics*
Infant, Newborn
Male
Molecular Epidemiology
Risk Factors
United States / epidemiology
Grant Support
ID/Acronym/Agency:
K01 ES00352/ES/NIEHS NIH HHS
Chemical
Reg. No./Substance:
0/Hazardous Substances

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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