Problems that confound the clinical characterization of Polycystic ova
ry syndrome (PCOS) also complicate the search for its genetic cause. T
here is no consensus as to the nature of the clinical phenotype for PC
OS, and there is even doubt whether polycystic ovaries are an indispen
sable part of the syndrome. Few ethnic studies on PCOS have been perfo
rmed, although it has been reported in most major racial groups. Genet
ic studies of family clusters and relatives of affective probands have
shown a high incidence of affected relatives. A dominant mode of inhe
ritance, rather than a recessive one, seems more likely, Multiple gene
tic causes of adult-onset hyperandrogenism and chronic anovulation hav
e been identified. Chromosomal studies of patients with PCOS have show
n no consistent abnormality. Molecular genetic studies are now ongoing
. Future genetic models should consider such problematic areas as the
heterogeneity of the syndrome, phenotypes iri males as well as in fema
les in the nonreproductive years, the exclusion of secondary causes of
hyperandrogenism, and the persistence of a syndrome that adversely af
fects fecundity.