Ingrid Dravecká
Polycystic ovarian syndrome characterized by chronic anovulation and hyperandrogenism represents one of the common endocrinopathies in women of reproductive age. Defects of hypothalamus-pituitary axis, ovarian function and failure of secretion and insulin effect contribute to its aetiopathogenesis. Genetic mechanisms affecting functional hyperandrogenism and polycystic ovarian syndrome are still unknown. The expression of hyperandrogen phenotype is affected by many gene variations and the environmental background. Variations of genes regulating biosynthesis and androgen function, insulin resistance and metabolic syndrome play an important role in genetic predisposition. The knowledge of genetic background of functional hyperandrogenism and polycystic ovarian disease can contribute to better understanding of its pathogenesis and thus facilitate in improving its prevention, diagnostics and treatment.