Polycystic ovary syndrome. Phenotype to genotype.

Available studies suggest there is a strong familial component to PCOS regardless of the diagnostic criteria used to ascertain probands and to assign affected status in kindreds. Investigation of all kindred members using the same systematic screen for metabolic and reproductive abnormalities strengthens the validity of conclusions. There is no substitute for direct biometric or biochemical proof of the phenotype. Initial studies by the author and his colleagues suggest that hyperandrogenemia in sisters is a valid phenotype characteristic. Further study is necessary to establish other phenotypes in the families. Large family clusterings of PCOS offer the best opportunity for identifying unique strains of PCOS. These families may represent a homogeneous etiology of the syndrome despite significant phenotypic heterogeneity within a given pedigree. Linkage analysis should be performed between polymorphic markers spaced at regular genetic intervals, and these familial traits may identify critical regions for further investigation.