Abstract
PCOS is a multifactorial polygenic disease (interaction between several genetic and environmental factors), with a heritability of ∼70 %. Even if several studies conducted in families of women with PCOS have demonstrated the genetic basis of the syndrome, nowadays a genetic pattern certainly involved in PCOS predisposition has not been identified. Most studies have included different kinds of genes: those related to androgen biosynthesis and action and their regulation, genes involved in insulin resistance and associated disorders, and also genes involved in chronic inflammation and atherosclerosis.
The etiology of this syndrome is still partly unknown, but it is likely to be multifactorial: in this chapter, PCOS etiopathogenesis theories are widely explained, and the essential role of insulin resistance is highlighted.
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Stracquadanio, M., Ciotta, L. (2015). Etiopathogenesis. In: Metabolic Aspects of PCOS. Springer, Cham. https://doi.org/10.1007/978-3-319-16760-2_2
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