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Prevalence

The prevalence of PCOS in women of childbearing age depends on the diagnostic criteria. Generally, 1 in 10 to 1 in 20 women has PCOS. In 2010, The World Health Organization estimated that PCOS affects approximately 116 million women worldwide and that as many as 5 million women in the United States are affected. Another study using the Rotterdamn criteria found that 18% of women have PCOS and that 70% of them were previously undiagnosed.

Causes

PCOS is a disorder of unknown cause. However, strong evidence such as the familial clustering of cases leads many experts into thinking that it may be a genetic disease. Women with PCOS are more likely to have a close female relative with PCOS as well. This appears to be inherited in an autosomal dominant fashion and can be inherited from either the father or mother. The exact gene responsible for the disorder has not yet been identified and evidence suggests that it may be a complex multigenic disorder.  Some researchers believe that insulin may be linked to PCOS as many women with the disorder have high levels of insulin in their bodies. As well, many symptoms and their severity are determined by factors such as obesity, exposures during prenatal period, epigenetics and environmental impacts. Study of Klbus et al. in 2007 claimed that a common polymorphism of the interleukin-1alpha gene is associated with the presence of PCOS.

Symptoms

Symptoms for PCOS, often mild at first, vary amongst individuals. The occurrence of specific symptoms may also depend on the time of month. Common symptoms include:

 

- Metabolic syndrome: Weight gain and symptoms associated with insulin resistance

- Thinning hair on the scalp

- Excessive hair growth on face, chest, abdomen

- Acanthosis nigricans

- Darkening and thickening of skin especially on neck, armpits and groin

- Irregular and/or infrequent menstrual cycles - often fewer than 9 cycles a year and some may have none at allInfertility issues (PCOS is the most common cause of infertility)

- Depression or anxiety

 

Even though the name of the disorder suggests cysts in the ovaries, the disorder may continue to prevail even if both ovaries are removed. In actuality, cysts in the ovaries are seen only in 15% of women with PCOS. 

Diagnosis & Diagnostic Testing

The diagnosis of PCOS is mainly based on a medical history examination and a physical exam. The healthcare provider may ask about the patient’s health and menstrual cycle to determine if it fits with the criteria. Although a pelvic ultrasound is not necessary for diagnosis as PCOS can occur without the presence of cysts, doctors may use the ultrasound to rule out other ovarian problems. Since 2003, PCOS is diagnosed with Rotterdam criteria, which includes: irregular menstration, imbalance FSH/LH hormones and ultrasound findings.

 

To diagnosis PCOS, the healthcare provider must follow various steps and undergo multiple examinations:

 

  • Medical History - The patient will be asked about their menstrual periods, symptoms and weight fluctuations

  • Physical Exam - The healthcare provider will measure blood pressure, BMI, height, weight, waist size and natural hair growth. A physical exam may also be down by a gynaecologist.

  • Blood tests - To check androgen hormone and glucose levels in the blood to see if they are elevated above normal. As well to rule out thyroid or gland problems that result in similar symptoms.

  • Anti-Mullerian hormone (AMH) level testing – AMH level reflects the number of developing follicles and is often high in PCOS patients. This testing plays an essential role in the process of follicular arrest and is a supplementary marker of POS in cases where ultrasound examinations are not feasible.

  • Pelvic Exam or vaginal ultrasound - to see if ovaries are enlarged or have small cysts

Treatment

There is no direct cure for PCOS. However, there are multiple treatment methods to reduce the patient’s signs and symptoms. Most women will need a combination of these treatments. The most important treatment is a lifestyle modification as many women with PCOS are overweight or obese. By making healthy eating and active living choices, it can effectively manage PCOS. Even in a 10% loss in body weight can restore a regular menstrual cycle. Pharmacologic treatments such as oral contraceptives, metformin, prednisone, leuprolide, clomiphene and spironolactone are reserved for metabolic derangements due to PCOS.

 

 For women who don’t want to get pregnant, birth control pills can help control menstrual cycles, reduce androgen levels and clear acne. For women facing infertility issues, fertility medications can stimulate ovulation and help women become pregnant. Clomiphene is often the first choice therapy to stimulate ovulation in most patients. Other options include gonadotropins and in vitro fertilization. For PCOS women with insulin resistance, medication (metformin) may be prescribed to improve insulin sensitivity. At the same time, metformin also support ovarian functions and stabilizes ovulation. 

Prognosis

PCOS is a chronic condition with manifestations that commonly begin in adolescence. PCOS patients are more prone to developing serious health complications such as type 2 diabetes, risk of cardiovascular diseases, high blood pressure, and developing sleep apnea and develop anxiety and depression. Studies show that the risk of a heart attack for women with PCOS is 4-7 times greater than women of the same age without PCOS.  Women with PCOS are also at risk for endometrial cancer due to their lack of progesterone leading to endometrial hyperplasia. As well, diagnosis of PCOS suggests increased risks in strokes, miscarriages, cardiovascular diseases and non-alcoholic fatty liver disease, especially if the woman is obese.

Rare Genomics Institute

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