Polycystic ovary syndrome (PCOS) is the most common hormonal disorder in women, affecting 5-10% of the female population. It is characterized by irregular menstrual periods and infertility due to a lack of ovulation (release of an egg), and by signs of excess male hormones overproduced by the ovaries. Unwanted facial or midline body hair, acne or hair loss from the scalp can all be signs of excess male hormones. The symptoms usually start in adolescence, but can appear in the 20’s or 30’s. Many patients with PCOS are overweight and may have problems associated with obesity such as insulin resistance, an increased risk of diabetes, abnormally high cholesterol levels and high blood pressure. The ovaries are usually enlarged with a smooth surface and multiple small cysts seen on an ultrasound exam. The small cysts are actually follicles (the small fluid sacs that house the eggs) that have not grown large enough to release their eggs.
The actual cause of PCOS is unknown. It appears that women are genetically prone to this disorder. Female relatives of a patient with PCOS have a 50% chance of having it themselves. Certain lifestyle factors such as a high calorie, high carbohydrate diet and inadequate exercise may worsen many of the symptoms. Many of the symptoms are due to disruption of the menstrual cycle. The normal menstrual cycle begins with a period (menstruation) which is the lining of the uterus sloughing off. At this time, the ovary contains several small fluid sacs called follicles, each of which contains an egg. Under the influence of follicle stimulating hormone (FSH) from the brain, one of these follicles should grow and make estrogen which is the hormonal signal to the uterus to build up a thick lining where the embryo will eventually implant. The brain then uses luteinizing hormone (LH) to signal the follicle to rupture (ovulate) and release the egg into the fallopian tube. After ovulation, the ruptured follicle seals back up and forms a cyst called a corpus luteum whose job it is to make progesterone. Progesterone is the signal to the lining of the uterus to be receptive to the implanting embryo. If the embryo does not implant, progesterone levels fall and this causes a period.
In PCOS, the follicle starts to grow but never reaches a size big enough to ovulate. The follicle makes estrogen which makes the lining of the uterus thicken, but because it doesn’t ovulate, it doesn’t produce progesterone and the uterus has no signal to tell it whether to bleed or not, causing infrequent menstruation. Eventually the lining may start to slough off a little bit at a time, causing unpredictable bleeding every day; or a lot of the lining may come off, leading to heavy bleeding. The lining can sometimes get so thick, that the cells become abnormal, precancerous or even cancerous. Since the follicles never rupture, month after month they fill up in the ovary and create a line of small cysts right near the surface of the ovary, giving the classic “polycystic” appearance. The term “polycystic” means “many cysts” of the ovary, but these are not so much cysts as they are immature, un-ruptured follicles. They are not harmful or cancerous cysts.
The polycystic ovary makes more testosterone than estrogen, which makes it even harder for the ovary to ovulate. The over-activity of the middle part of the ovary that makes testosterone causes the ovary to enlarge in size. High testosterone levels lead to excess facial hair and acne, thinning or loss of hair from the scalp, and abnormally high cholesterol levels. Insulin is the hormone that allows the body to take sugar (glucose) from the bloodstream and move it into the cells to use for energy. Many women with PCOS are resistant to their own body’s insulin, which means they have to make more insulin to get the sugar into their cells for energy. This problem is called insulin resistance. The resulting high levels of insulin cause the ovary to make more testosterone, and therefore not to ovulate, and promotes the storage of fat, making it hard to lose weight. A vicious cycle is created because overweight women make even more insulin and become even more resistant to it. Women with PCOS, particularly those who are overweight are at an increased risk of diabetes. Other health problems can also occur such as high blood pressure, abnormal cholesterol levels and heart disease.
Because PCOS is a syndrome, and not a disease, the treatment is targeted at the most concerning symptom. Lifestyle changes and treatments to prevent diseases associated with PCOS can also be implemented. The most common treatment for irregular periods is the birth control pill. The pill provides the right hormonal signals to the uterus to allow regular menstrual periods, and to keep the lining of the uterus from getting too thick. This effect allows for lighter periods and a reduced risk of cancerous changes to the lining. It also suppresses the ovaries, so that they do not make as much testosterone. Another hormonal option is to give progesterone for 5-10 days each month. This will cause the thickened lining of the uterus to slough within one week. This treatment is often given (after a negative pregnancy test) prior to starting birth control pills or fertility treatments. Neither treatment makes the ovaries ovulate.
Excess hair growth is a frustrating problem and is due to the effects of excess testosterone on the hair follicles. Normally in women hair follicles on the face and lower abdomen don’t make thick hair, but with excess testosterone they do. The hair follicles may also make excess sebum leading to acne, or grow hair so fast that it falls out. One effective treatment is the birth control pill, which lowers testosterone levels and lessens hair growth and acne. It takes several months to see the improvement. Other medicines that block testosterone production such as spironolactone (Aldactone), flutamide (Eulexin) and finasteride (Proscar) can be given but must be accompanied by birth control because they can cause birth defects, particularly in male fetuses. A facial cream called Vaniqa is also available to help suppress facial hair growth. Electrolysis and laser hair removal are also used, once the testosterone levels are suppressed.
It is estimated that up to 3/4 of patients with PCOS have some form of insulin resistance, particularly those who are overweight or obese. Up to 15% of patients actually have diabetes. Studies have shown that weight loss can improve or eliminate these problems, but many patients also need the help of medications to lower insulin levels and balance their sugar metabolism. This is important for overall health because it will decrease the risk of diabetes and heart disease. Medications include Glucophage, Avandia and Actos. These medications must be monitored carefully to limit side effects and to ensure proper dosing. They also can allow the ovaries to start functioning normally, which could result in more regular menstrual cycles, ovulation and pregnancy.
Infertility problems occur with PCOS because of the lack of ovulation. The most common treatment for inducing ovulation is to give the fertility pill clomiphene citrate (Clomid, Serophene). Clomiphene helps the body make more follicle-stimulating hormone (FSH) to stimulate the growth and release of follicles and their eggs. Eighty percent of patients will ovulate and half of those who ovulate will ultimately conceive after several attempts. There is a modest increase in the risk of having twins (7%) with clomiphene. Some patients do not respond to clompihene and may require other therapies. One option is to give medications such as Glucophage, Avandia or Actos to lower insulin levels to help the ovaries ovulate, or to respond better to other fertility medications. Another option is to use fertility shots that contain FSH. These shots directly stimulate the ovaries, but must be used carefully because patients with PCOS can have an excessive response to these medicines and make too many eggs, increasing the risk of multiple pregnancies including the possibility of triplets or higher order pregnancies. Therefore, these medicines must be monitored carefully by a trained Fertility Specialist (Reproductive Endocrinologist). Some patients will benefit from in Vitro Fertilization (IVF), where eggs are removed from the ovaries after stimulation with fertility shots, then mixed with sperm in a dish in a laboratory to create embryos that are then one or more can be replaced back into the uterus. Any remaining embryos can be frozen, if desired, to limit the risk if higher order multiple pregnancies (triplets or more) and for use in future fertility attempts.
In summary, there is hope for women affected by this common syndrome called PCOS.