Polycystic ovary syndrome: a single gene mutation or an evolving set of symptoms

Polycystic ovary syndrome is one of the most common endocrinopathies among women. Nevertheless, there is no one single acceptable definition for this syndrome, its pathophysiology is not completely understood and its etiology remains an enigma. Several studies have examined the genetic basis of polycystic ovary syndrome with varying results, probably caused by the different criteria used to define the syndrome. These studies, together with studies that deal with reclassification of polycystic ovary syndrome, are described in the following review. Furthermore, a simplified alternative approach to this symptom complex is proposed.