Genetics and Phenotypes in PCOS

PCOS was initially viewed as a single gene disorder with a strong familial component. It is now understood to be a complex genetic disorder, though clearly with familial phenotypes. Multiple GWASs have identified similar loci and meta-analyses have identified further loci. Rare variants have also been identified. These loci have been only superficially studied to date and have not led to breakthroughs in understanding or treating PCOS. Personalized medicine for patients with PCOS is still in its infancy.