Overview

Polycystic ovarian disease (PCOS), also referred to as polycystic ovarian disease (PCOD), is a worldwide disorder seen in women of reproductive age in all populations and ethnic groups. The causes and symptoms of PCOS are not standard and vary widely in different women

 According to the World Health Organization (WHO), polycystic ovarian syndrome (PCOS) affects an estimated 8–13% of women of reproductive age. Up to 70% of affected women remain undiagnosed worldwide.

It is estimated that approximately 116 million women (3.4%) are affected by PCOS globally. And, due to an acute lack of knowledge about this condition, it often stays undiagnosed for years.

Many clinicians dismiss it as a cosmetic problem because its initial symptoms are often mild.

However, in many women, the symptoms can be quite distressing, and hirsuties in particular can be quite stressful with regard to body image and attractiveness. Hirsutism is excess hair growth on the body or face. It’s caused by excess hormones called androgens.

Hirsuties in woman with PCOS
Hirsuties in woman with PCOS

However, current evidence suggests long-term implications of PCOS, such as diabetes and metabolic syndrome.

PCOS is the most common endocrine system or hormonal disorder that causes enlarged ovaries with small cysts (fluid-filled spaces) on their periphery often described as a “string of pearls.” The cysts may be present in one ovary or in both ovaries.

Besides polycystic ovaries, hormone imbalance and irregular periods are its other telltale signs and symptoms.

Though its etiology isn’t completely understood, polycystic ovary syndrome is believed to be due to a combination of genetic and environmental factors. It is also known to run in families raising the possibility of large genetic etiology.

In PCOS, there is excessive secretion of the luteinizing hormone by the pituitary gland in the brain, which causes the ovaries to produce more amounts of the male hormones, androgens, leading to the cardinal symptoms of PCOS namely irregular periods, acne, and hirsutism.

There is no cure for PCOS. The treatment lies in following certain lifestyle recommendations and keeping the symptoms under control with meds.

Symptoms suggesting its diagnosis

There is no textbook definition of PCOS symptoms. Though a group of symptoms are defined, every girl or woman with PCOS presents differently and there is no definite explanation for this.

Recent research has suggested that this could be due to the possible variations in genes that increase a woman’s risk of developing PCOS. These variations could also explain why the severity and symptoms of PCOS are so different among different women.

Some women may present with its symptoms after they start having periods. In others, symptoms may not start until later in life. Many aren’t diagnosed until they visit their gynecologist because of difficulty in becoming pregnant as PCOS is the most common cause of infertility in women.

Not all adolescent girls with menstrual irregularity have PCOS. Only about 40% of them with menstrual irregularities are diagnosed with PCOS on ultrasound.

Increased hair growth and development of acne can be normal signs of puberty, not necessarily of PCOS. Even multiple follicules in ovaries seen in USG is a normal sign in adolescents.

Symptoms of PCOS
Symptoms of PCOS

PCOS should be highly suspected in any adolescent girl presenting with the following symptoms and signs: However, you don’t have to have all the symptoms to be diagnosed with this condition.

  • Progressive increasing hair growth on chin, lip, upper abdomen,
  • Stubborn or unmanageable acne (refractory acne)
  • In PCOS, irregular periods or menstrual irregularity continues for more than 2 years after menarche (onset of periods). The menstrual periods may occur less frequently than every 35 days or there are more than 5 weeks between periods. Some women can have a period that lasts three weeks; others may not get a period for three months, while some women may get no periods at all. Only a small percentage of women with PCOS will have a regular menstrual cycle.
  • The hallmark sign of PCOS is the early appearance of pubic hair before 8 years of age (Premature Pubarche)
  • Strong family history of hypertension, abnormal lipid profile (usually high triglycerides), overweight/obesity, significant belly fat, and insulin resistance, type 2 diabetes (all features of metabolic syndrome)
  • Anovulation (lack of ovulation) or occasional ovulation
  • Low bone density
  • High testosterone levels in blood as shown by lab studies
  • Dark, smooth patches of skin on the lower part of the neck, armpits, groin, or under the breasts (acanthosis nigricans) are caused by high levels of insulin due to insulin resistance.

If a woman has less than eight periods in a year, there is a 60 to 80% possibility of her having PCOS. The possibility is greater than 90% if the woman has irregular periods along with high androgen hormone levels.

Another variation is that some women with PCOS don’t show or have any cysts in their ovaries. Again, though PCOS is mostly associated with obesity, it has also been diagnosed in lean women.

Symptoms of PCOS after menopause 

Research suggests that PCOS patients may continue to have high androgen levels after menopause, along with symptoms like thinning hair on the scalp, mood changes, weight gain, and sleeplessness. After the age of 70 years, the androgen levels return to normal but symptoms like excess hair growth may persist. 

Differential diagnosis

Other conditions that can mimic PCOS signs and symptoms include:

  • Thyroid problems leading to thyroid hormone abnormalities and irregular periods
  • Non-classical congenital adrenal hyperplasia can also cause symptoms of excessive androgen levels, irregular periods, and early pubarche.
  • Hyperprolactinemia also causes hirsutism, irregular periods, and galactorrhea (milky discharge from breasts). Hyperprolactinemia is abnormally high levels of the hormone prolactin in the blood. Prolactin hormone stimulates breast milk production during and after pregnancy) in the blood.

Causes of PCOS

The cause of polycystic ovary syndrome isn’t well understood but seems to suggest a combination of genetic and environmental factors.

Since the symptoms of PCOS are seen to run in families, genetics has been a focus of PCOS research for long.

Besides the possible genetic etiology, environmental factors are also considered strongly responsible for the pathogenesis of PCOS.

Such factors include excessive secretion of androgens by the ovaries, the onset of insulin resistance, chronic low-grade inflammation caused by the secretion of inflammatory mediators from white blood cells, and partial inhibition of the growth and development of ovarian follicles.

Insulin resistance affects 50–90% of women with PCOS and is an essential component of its pathogenesis.

The severity of PCOS depends on insulin and androgen blood levels. Excessive insulin levels and insulin resistance cause increased secretion of androgen from the ovaries. This acts as a signal for increased production of free fatty acids from the visceral adipose tissue, which can result in weight gain, making insulin resistance worse.

Causes of PCOS
Causes of PCOS

Let’s consider these possible causative factors :

  • Genetics. PCOS tends to run in families, so genetics has long been a focus of PCOS research. Some studies claim that PCOS has an autosomal dominant inheritance, which is the transfer of a genetic trait or condition from parent to child. It is strongly believed that the interaction between genetic and environmental factors is the root cause of PCOS development. Genome-wide association studies have recognized some genetic factors that could be strong risk factors associated with PCOS.
  • Insulin resistance. Insulin is a pancreatic hormone that facilitates the body cells to take up sugar from the blood for energy generation. If cells become resistant to the action of insulin and do not or cannot uptake sugar from the blood, then blood sugar levels go up. To counter this, the pancreas secrete more insulin to try and bring down the blood sugar level. Higher insulin levels stimulate the ovaries to produce more male hormones (androgens). Excess of androgen causes follicular arrest and chronic anovulation mainly through its actions on theca cells of the ovaries.
  • Low-grade inflammation. Studies indicate that chronic low-grade inflammation caused by the secretion of inflammatory mediators from white blood cells is present in patients with PCOS. There is a strong correlation between increased levels of C-reactive protein (CRP) and women with PCOS. High CRP levels indicate the presence of inflammation in the body. This chronic inflammatory state is further aggravated by obesity and high insulin levels and causes the polycystic ovaries to produce more androgens, increasing the risk of heart problems. 
  • Excess androgen. With PCOS, the ovaries may produce high levels of androgen (eg. testosterone) because of the high levels of LH and increased levels of insulin. The normal androgen levels in the granulosa cells of the ovaries are necessary for optimal formation and development of the follicles in the ovaries (folliculogenesis). Excess of androgen levels results in folliculogenesis arrest and anovulation mainly through the action of the androgens on the theca cells of the ovaries.

Complications

Complications of PCOS can be short-term and long-term.

Early complications include:

  • Infertility. Infertility is due to the ovulatory disorder caused by PCOS resulting in anovulation
  • Miscarriage or premature birth. If conception takes place, there is an increased risk of miscarriage or premature birth
  • Gestational diabetes (GDM). GDM complicates 40 % of PCOS pregnancies, suggesting that PCOS is a significant risk factor for GDM.
  • Pre-eclampsia. Women with PCOS had a 29% increased risk of pre-eclampsia.

Long-term complications

  • Metabolic syndrome. Metabolic syndrome is a cluster of conditions in which at least three of the following five metabolic conditions are present: abdominal obesity, high blood pressure, high blood sugar, high serum triglycerides, and low serum high-density lipoprotein. According to the National Library of Health, 43% of adult women and nearly one-third of adolescent teenagers with PCOS have metabolic syndrome.
  • Cardiovascular complications. Due to the presence of risk factors such as hypertension, dyslipidemia, diabetes, visceral obesity, and chronic low inflammation, women with PCOS are prone to cardiovascular disease (CVD).
  • Type 2 diabetes. According to the Centers for Disease Control and Prevention, more than half of women with PCOS develop type 2 diabetes by the age of 40 years. Due to insulin resistance, women with PCOS are prone to diabetes especially so when obese.
  • Obstructive sleep apnea. Recently, reports have found a high incidence of obstructive sleep apnea (OSA) in women with PCOS. High androgen and low estrogen levels with higher visceral obesity in PCOS could potentially contribute to this complication.
  • Anxiety and depression. According to the results of research, the overall likelihood of anxiety and depression in PCOS women was more than 2.5-fold higher than in healthy women. Fatigue, sleep disorders, and low mood were the most frequently seen symptoms of depression in women with this condition.
  • Eating disorders. Adult women with PCOS are four times more likely to develop eating disorders particularly binge eating disorder, bulimia nervosa, and disordered eating, regardless of weight.
  • Cancer of endometrium (uterine lining). PCOS increases the risk of endometrial cancer because of the prolonged exposure of the endometrium to estrogen caused by anovulation, which leads to endometrial hyperplasia and subsequently can lead to endometrial cancer.
  • Nonalcoholic steatohepatitis (NAFLD). NAFLD is a severe liver inflammation caused by excess fat buildup in the liver. Obesity and insulin resistance are suspected as the main contributing factors to NAFLD in PCOS. Hyperandrogenism (high androgen levels) could also be an additional contributing factor to the development of NAFLD.

FAQs  

Why do females with PCOS have irregular periods, missed periods, and unpredictable ovulation?

In females with PCOS, there is an imbalance in the reproductive hormones caused by abnormally high levels of androgens due to the overproduction by the ovaries. Therefore, women with PCOS, often have irregular menstrual cycles, missed periods, and unpredictable ovulation. For the same reason, in the absence of ovulation, women with PCOS find it difficult to get pregnant.

Why women with PCOS are overweight or are obese?

In women with PCOS, metabolic and hormonal imbalances such as insulin resistance and hyperandrogenism (high androgen levels), can lead to weight gain and eventually, the woman can become obese. About 40–80% of women with PCOS are reported to be overweight or obese.

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