Menstrual irregularity and anovulation associated with excessive ovarian production of male sex hormones, manifested by hirsutism, oily skin and acne, is the most common endocrine disturbance of women of reproductive age. As many as 10% of women of reproductive age suffer from these symptoms, usually referred to as polycystic ovary syndrome (PCOS) because of the frequent association of the endocrine disturbance with enlarged ovaries containing multiple follicular cysts. PCOS is a cause of infertility and it has recently been recognized to be associated with long-term risks of diabetes and cardiovascular disease.
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Despite the fact that PCOS has been known as a clinical entity for some 60 years, there is still debate about the criteria that should be used in diagnosing the condition. The causes of the disorder are more obscure. While there is evidence to suggest that PCOS has a genetic component, the nature and number of genetic loci involved, and their mode of inheritance and penetrance are debated. Arguments supporting claims for primary defects in hypothalamic/pituitary function, the ovary and adrenal glands, and insulin and insulin-like growth factor action co-exist in the literature, making PCOS a disease of theories (25). It appears likely that PCOS is caused or influenced by more than one gene and may, in fact, reflect a general metabolic disturbance.
Although polycystic ovaries, which commonly occur in association with hyperandrogenemic anovulation, can be produced by various treatments in laboratory animals, it is not evident that these animal systems bear any pathophysiologic resemblance to the human syndrome.
While there are several successful therapies for the anovulatory infertility of PCOS, not all patients respond to standard treatment and successful ovulation and conception in women with PCOS more frequently ends inexplicably in early pregnancy loss. It is not known whether this reflects abnormalities in the germ cells or an abnormal response of the ovary and/or uterus to ovulation induction.