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 there is a severe disturbance of reproductive, endocrine and metabolic function. The pathophysiology of the PCOS appears to be multifactorial and polygenic. The definition of the syndrome has been much debated (see Chapter 2) yet this is pivotal to any discussion about genetic origins. Furthermore, there is considerable heterogeneity of symptoms and signs amongst women with PCOS.1 PCOS is familial and various aspects of the syndrome may be differentially inherited. Polycystic ovaries can exist without clinical signs of the syndrome, which may then become expressed over time. There are a number of interlinking factors that affect expression of PCOS. A gain in weight, for example, is associated with a worsening of symptoms.
