Document Detail

Genetic and environmental aspect of polycystic ovary syndrome.
MedLine Citation:
PMID:  15008257     Owner:  NLM     Status:  MEDLINE    
Polycystic ovary syndrome (PCOS) is a heterogeneous syndrome determined in most patients by the association of two main factors: hyperandrogenism and insulin resistance. These characters are probably independent of each other and seem to be inherited by several different mechanisms. In some patients homozygous gene alteration has been found but in most patients PCOS seems to be determined by the association of gene polymorphisms that are common in the general population but alone are unable to determine phenotypic consequences. Alteration of genes that regulate the initial steps of ovarian steroidogenesis is probably the main causal factor of hyperandrogenism. Insulin resistance may be the result of many different gene alterations including insulin receptor substrate (IRS)-1 and 2, calpain-10 and peroxisome proliferator-activated receptor gamma(PPARgamma). Some polymorphisms may be protective against other gene alterations. Insulin sensitivity is also modified by socioeconomic and cultural factors that influence quantity and quality of food and energy expenditure. However, even eating behavior and weight response to food intake may be under genetic regulation. Different combinations of multiple gene polymorphisms and of environmental factors explain the heterogeneity of PCOS.
E Carmina
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of endocrinological investigation     Volume:  26     ISSN:  0391-4097     ISO Abbreviation:  J. Endocrinol. Invest.     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2004-03-10     Completed Date:  2004-09-28     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7806594     Medline TA:  J Endocrinol Invest     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  1151-9     Citation Subset:  IM    
Department of Clinical Medicine, University of Palermo, Palermo, Italy.
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MeSH Terms
Eating / physiology
Energy Metabolism / physiology
Genetic Predisposition to Disease
Hyperandrogenism / genetics
Insulin Resistance / genetics
Obesity / genetics
Polycystic Ovary Syndrome / etiology*,  genetics*,  metabolism

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