Diagnosis of Polycystic Ovary Syndrome

Signs and Symptoms of Polycystic Ovary Syndrome

Most women with polycystic ovary syndrome (PCOS) usually present to a doctor with some or all of the following symptoms:

  • Menstrual irregularities
  • Infertility
  • Cystic ovaries
  • Obesity
  • Hirsutism (excessive body and facial hair)
  • Acne/Seborrhea
  • Insulin resistance
  • Alopecia (thinning hair or male-pattern baldness)
  • Acanthosis nigricans (dark patches of skin)
  • Dyslipidemia (abnormal lipid levels)
  • Obstructive sleep apnea syndrome (OSAS)

Menstrual Irregularities

In the normal menstrual cycle, GnRH (Gonadotropin Releasing Hormone) is released by the hypothalamus and the hormone stimulates the pituitary gland to direct the release of FSH (follicle stimulating hormone) and LH (luteinizing hormone). The menstrual cycle begins when FSH rises as estrogen and progesterone fall at the end of the previous cycle. Follicles on the ovary begin to grow in response to FSH. The theca cells in the follicles produce androgens (male hormones, e.g. testosterone) in response the LH and these androgens are converted to estrogen in response to FSH.

As estrogen increases, one dominant follicle that grows up to 20 mm in size, emerges on the ovary. There is a surge of LH that results in ovulation, during which the follicle erupts and an egg is released. Additionally, in response to the rising estrogen, the endometrium (central lining of the uterus) thickens and becomes very vascular. If no pregnancy occurs, progesterone and estrogen levels fall and the endometrium is sloughed off in the form of menstrual flow and the next cycle begins.

In PCOS, multiple follicles form but none exceed 9 mm in size because the elevated FSH necessary to promote maturation is lacking. It is thought that there are other factors may be involved in the failure of a dominant follicle to develop and these factors may be related to an unknown "programming" problem within the ovary or somewhere in the endocrine system. Another theory is that high levels of insulin may somehow cause premature cessation of follicular development. Women who are hyperinsulinemic tend, in general, to have more menstrual abnormalities.

A woman with PCOS may experience heavy uterine bleeding at unpredictable times (dysfunctional bleeding). But this type of bleeding represents only the excretion of the top layers of endometrium and not the amount that should be eliminated in the course of a normal cycle.

Menstrual irregularities can normally occur during adolescence and can often be a confusing factor in the early diagnosis of PCOS. Whereas in non-PCOS adolescents cycles usually are regulated after a couple of years, in adolescent girls with PCOS:

  • Over half of the menstrual cycles are anovulatory even three years after onset of menstruation
  • They still experience dysfunctional bleeding
  • Still may experience amenorrhea

Infertility

In addition to menstrual irregularities, PCOS is a major cause of anovulatory infertility. According to Resolve: National Infertility Association, infertility is considered to be the inability to become pregnant within 12 months of trying to conceive. In PCOS, infertility is usually due to problems with ovulation. When a woman with PCOS does become pregnant, there is an elevated risk of miscarriage. The International Council on Infertility Information Dissemination (NCIID) among others estimates that the risk of miscarriage is approximately 45%.

One-third or more of women with PCOS experience some degree of infertility but the incidence may be less for non-obese women. It is important to distinguish women with PCOS and women without PCOS who may have polycystic ovaries but regular ovulatory cycles, since their rates of infertility are different.

Some estimates ascribe anovulation to be the cause of infertility in 25% of couples and it is known that PCOS is the most common cause of anovulation. This would mean that PCOS could be a factor in approximately 20% of infertile couples.

Cystic Ovaries

Women with PCOS often have ovaries that contain multiple cysts (fluid filled sacs of underdeveloped follicles) that have been described as a "string of pearls". Polycystic ovaries in women diagnosed with PCOS are often 1.5 to 3 times larger than normal and usually contain at least 8-10 cysts each of which is less than 10 mm.

Often, there is also an increase of stromal tissue (connective tissue of the ovary) in the center of the ovary and around the follicles. Both the cysts and stromal tissue produce hormones that may increase the probability, and possibly the severity, of symptoms of PCOS. It is not clear if PCOS affects the quality of the eggs.

Obesity

Approximately 40% of women with PCOS are obese. Obesity is a significant risk factor in PCOS as it increases the chances for and exacerbates existing insulin resistance, which, in turn, may intensify the other factors of PCOS. The most common type of obesity in PCOS is android obesity, often described as an 'apple figure' and is measured by the waist:hip ratio.

Obesity can be described using different parameters of weight and height ratios. According to the National Women's Health Information Center, women with more than 30% body fat are considered obese. The American Obesity Association defines obesity based on body mass index (BMI) where a BMI greater than 30 indicates obesity. Others describe obesity as 120% of ideal body weight. The cause of obesity is not clear but it has a marked effect on glucose tolerance and exacerbates the hyperinsulinemia. Women with PCOS can also be significantly overweight but not obese (BMI between 25 and 30). Women who are obese are at increased risk for multiple health problems including cardiovascular problems such as heart attack and hypertension.

Hirsutism

Hirsutism is defined as inappropriate hair growth in androgen sensitive areas of the body (areas where hair growth is related to male/female hormones). These include the chin, upper lip, neck, chest, upper and lower back, upper and lower abdomen, upper arms, thighs, and perineum (area between the scrotum and the anus). The severity of hair growth is measured by the Ferriman-Gallway scoring system and hirsutism is defined as a value of 8 or more on this scale.

The presence of hirsutism is related to several factors including:

  • Potency and quantity of circulating androgens
  • Sensitivity of the hair follicles to androgens
  • Duration of the exposure of the follicles to androgens
  • Density of the hair follicles

Up to 70% of women with PCOS are hirsute and exhibit increased or excessive facial and body hair in a pattern of male distribution. Because of the elevated androgen levels, the growth phase of the hair cycle is prolonged which results in increased hair. It is most noticeable on women with dark hair. Although hair growth follows a male pattern due to the hyperandrogenism, virilization (masculine features) is not commonly found in women with PCOS and if present, it is usually mild.

Hirsutism is a considerable source of embarrassment for many women, especially for adolescents. Polycystic ovary syndrome is the leading cause of hirsutism in adolescents.

Acne/Seborrhea

Increased androgens also stimulate sebaceous (oil) gland cells which results in increased production of skin oils and dead skin cells. This combination blocks the pores and allows bacteria to multiply and cause inflammation. In hyperandrogen-related acne, women often experience severe, persistent, cystic eruptions. Some studies estimate that up to 35% of women with PCOS suffer from acne. More than one third of women who seek dermatological treatment for acne have PCOS. Polycystic ovary syndrome is also associated with seborrhea, which is flaking skin from the scalp caused by excessive oil.

Alopecia

Some women with PCOS develop alopecia, which is thinning of the hair at the top of the head. It is often called 'male pattern baldness'. It is not seen as often at the temples as it is on the head.

Insulin Resistance and Hyperinsulinemia

As discussed above, insulin resistance and hyperinsulinemia seem to be at the core of PCOS and are related directly or indirectly to almost all of the symptoms.

Acanthosis Nigricans

A sign of hyperinsulinemia is the development of a skin condition called acanthosis nigricans (AN). This appears as velvety, hyperpigmented, warty skin on the nape of the neck, in the armpits, under the breasts, in the vulva, and in other body folds. Persons with AN are at risk for the development of severe insulin resistance, dyslipidemia, non-insulin dependent diabetes mellitus, and hypertension. Prepubertal girls with AN and premature adrenarche have significantly reduced insulin sensitivity.

Dyslipidemia

Dyslipidemia may be associated with PCOS in some women and is characterized by elevated LDL, reduced HDL and elevated triglycerides.

Obstructive Sleep Apnea Syndrome

A study published in 2001 in the Journal of Clinical Endocrinology and Metabolism reported that women with PCOS are at increased risk for obstructive sleep apnea syndrome (OSAS) and excessive daytime sleepiness (EDS). The authors of this study suggested that insulin resistance may be an important risk factor in women with PCOS for developing OSAS and EDS. A separate study in the same medical journal reported that obese women with PCOS are also at increased risk for developing OSAS as compared to age and weight-matched women without PCOS.