ABSTRACT
Polycystic ovary syndrome (PCOS) is a heterogeneous collection of signs and symptoms that gathered together form a spectrum of a disorder with a mild presentation in some, while in others a severe disturbance of reproductive, endocrine and metabolic function is seen. The pathophysiology of PCOS appears to be multifactorial and polygenic. Because the phenotype of women with polycystic ovaries (PCO) and the polycystic ovary syndrome may be very variable, it is then difficult to elucidate the genotype (see Chapter 5).1 It is also likely that different combinations of genetic variants may result in differential expression of the separate components of the syndrome.2
