Is There a Genetic Basis for Polycystic Ovary Syndrome?

摘要

PCOS) has a heritable basis (1, 2), at least in part, which could result from a genetic etiology, epigenetic changes, or an admixture of the two causes. The apparent heritable nature of the syndrome has led investigators to search for the gene (or genes) that contribute to devel- opment of the PCOS phenotype. One impetus for ge- netic studies of PCOS was to unravel the etiology of the syndrome and provide greater precision to the diagno- sis. Unfortunately, the phenotypic variability of the syn- drome represents a major hindrance to that goal be- cause the PCOS phenotype is based on criteria marked by a constellation of features, currently defined by the Rotterdam criteria (3). Thus, the PCOS phenotype is not a clearly delineated disease entity, and there is im- precision of diagnosis. Patients diagnosed with PCOS may satisfy the diagnostic criteria by having different features of the disease. Stated differently, PCOS can be conceptualized as a pathophysiological state of acyclic ovarian function rather than a single distinct disorder. This imprecision in diagnosis raises the strong possibil- ity that PCOS with different root causes will be lumped into the same “diseased category” for comparison with normal controls.