Polycystic Ovary Syndrome (PCOS) is an endocrine system disorder that occurs in women of reproductive age. PCOS is suspected in women who present with enlargement of their ovaries and/or with multiple follicles within each ovary.  It is diagnosed via trans-vaginal ultrasound of the ovaries. Polycystic Ovary Syndrome is caused by a dysfunction within the Hypothalamus-Pituitary-Ovarian Axis. The hypothalamus is an organ located in the brain that is responsible for the production of different hormones. The Hypothalamus-Pituitary-Ovarian Axis is the signaling system between the brain and body that regulate hormones and maintain homeostasis. In a healthy functioning body, the hormones produced in the hypothalamus will stimulate the secretion of the various hormones from the pituitary gland.  The hormones secreted from the pituitary gland will then act on their specific target organs. In PCOS were are dealing with the hormones that stimulate the ovaries. In order to understand the pathophysiology of PCOS, it is imperative to understand the normal Hypothalamus-Pituitary-Ovarian Axis influence on the ovaries.  The hormone that is produced and secreted from the hypothalamus is called Gonadotropin-Releasing Hormone (GnRH).  GnRH is the hormone that causes the release of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) from the pituitary gland.  The hormones LH and FSH then stimulate the ovaries to produce estrogen and progesterone.

Polycystic Ovarian Syndrome (PCOS) is thought to be a genetic disorder with environmental influences.  It is an autosomal dominant disorder that is passed down from parents to children.  There have been many clinical studies that link the development of Type II Diabetes Mellitus in a first-degree family relative to the increased risk of the patient having metabolic dysfunction.  This is partly because these patients are more likely to be diagnosed with Type II Diabetes Mellitus themselves. PCOS is also linked to obesity. Patients who are obese have increased levels of estrogen production.  One of the classic signs associated with PCOS is unopposed estrogen production and diminished progesterone production.  There are several genes that are linked to obesity and the development of PCOS.  The PCOS gene is located on the 2q21 locus and codes for a variety of genes. There is still controversy within the medical community as to what the definite cause of Polycystic Ovary Syndrome is.  Some additional theories that may play a significant role in the development of this disorder include:  increased or excess insulin production, low-grade inflammation, and hereditary.  In patients who have insulin resistance, there is an increased production of insulin from the pancreas.  The increased secretion of insulin may result in increased androgen production from the ovaries.  This elevation of androgens may affect the woman’s ability to ovulate; thus resulting in anovulation.  Low-grade inflammation may also contribute to the development of PCOS.  In patients who have low grade inflammation, the result may stimulate the ovaries to produce excess androgens.  Heredity also plays a significant role in PCOS development.

Many women present to their OB/Gyn physician with concerns regarding infertility and are subsequently diagnosed with this disorder.  The classic symptoms associated with women who have undiagnosed PCOS include: Anovulation Infertility Unpredictable or prolonged menstruation Increased hair growth all over the body (hirsutism) Acne Obesity. In many instances, women may begin to present with these symptoms shortly after they begin their menses.  However, it may present later in a woman’s reproductive years as well, especially if the individual has gained a significant amount of weight.  Increased weight gain can result in the increased production of estrogen, creating a hormonal imbalance. In women with PCOS, a pathognomonic sign is multiple cysts within the ovaries. These cysts can be visualized by a medical provider via trans-vaginal ultrasound.  Due to the excess production of androgens, male-pattern baldness may also be a symptom associated with PCOS.  While most of these signs and symptoms are classic indications of this disorder, each individual is still unique and may present with a variety of different signs and symptoms.  It is imperative as a physician to evaluate each patient individually and evaluate each of their symptoms equally.  Through a physical examination the patient can then be appropriately diagnosed.

The first step is to find a physician that specializes in PCOS so that the appropriate work-up, diagnosis, and treatment plan can be implemented.  Once the patient has established care with a physician, the physician will begin evaluation by obtaining a thorough history and physical examination.  PCOS is a diagnosis of exclusion and other disorders that may present with the same signs and symptoms must be ruled out before a diagnosis of PCOS can be proven. Other disorders that must be ruled out include:  adrenal tumors, ovarian tumors, thyroid dysfunction, congenital adrenal hyperplasia, hyperprolactinemia, acromegaly, and Cushing syndrome.  Each of these disorders listed above may result in the increased production of androgens and thus must be ruled out before moving forward with a diagnosis of PCOS.  These can be ruled out using laboratory evaluation, imaging, and physical examination by the physician. Laboratory testing to rule out the above disorders is imperative.  In addition to those specialized laboratory tests, it is imperative to evaluate the androgen levels.  In this panel of blood work, the following should be tested by your physician:  free testosterone, DHEA-S, sex hormone0binding globulin (SHBG), androstenedione, FSH, LH, TSH, and free thyroxine.  In addition the patients fasting glucose levels, insulin levels and lipids should also be evaluated.

Patient education is key in the treatment of PCOS.  Once the patient has been diagnosed with this disorder, appropriate changes can be made to allow for a better quality of life for these patients.  The first step is lifestyle changes.  Signs and symptoms may be exacerbated by a patients weight; therefore implementing a low-calorie diet that will allow for weight loss can help to minimize and alleviate some of these unwanted signs and symptoms. Regulating the menstrual cycle will address the hormonal imbalance that results in PCOS.  Please speak with your OB/Gyn to determine if a oral contraceptive would be appropriate to address this hormonal imbalance.  Oral contraceptives that contain both estrogen and progesterone can help to regulate the menstrual cycle alleviating abnormal bleeding. Because anovulation is a pathognomonic sign associated with PCOS, it can really have a negative effect on women who are trying to conceive.  There are medications that will help to simulate a woman’s capability to ovulate.  Medications including Clomiphene may be appropriate if the woman is trying to become pregnant.  There are other medications that may be used to simulate ovulation; therefore, do not give up if the first line therapy is not successful.  Please discuss the different medications available that can stimulate ovulation.