Diagnostic pitfalls of PCOS

PCOS Polycystic Ovarian Syndrome Agnes Ryu

Polycystic Ovarian Syndrome is the most common endocrine disorder of reproductive-aged women and affects 6-10% of the population. This can reach as high as 18% among certain cohorts when different diagnostic criteria are used. PCOS is a major cause of infertility and reduced quality of life in reproductive-age women.  PCOS is considered a multi-factorial disorder with various genetic, metabolic, endocrine and environmental abnormalities.

Metabolic dysregulation manifested in ovaries

There is increasing evidence suggesting that PCOS affects the whole of a woman’s life. It can begin in utero in genetically predisposed people, it manifests clinically at puberty, continuing during the reproductive years. It can expose patients to an increased risk of cardiovascular disease, hypertension, diabetes and other metabolic complications, especially after menopause. During the fertile period, it may cause menstrual irregularity and anovulatory infertility. Follicle development and mature egg formation are affected due to hormonal and metabolic alterations. PCOS is associated with increased prevalence of gestational complications, such as miscarriage, gestational diabetes and preeclampsia. Early diagnosis of PCOS is crucial.


Chronically raised insulin: the true culprit of the PCOS epidemic

It is now widely recognised that insulin resistance is a key to this complex disorder.

Metabolic dysregulation with a cluster of hormonal abnormalities such as elevated insulin, elevated androgens and reduced progesterone results in patients presenting with a wide range of health consequences across the board as all aspects of women’s health are dependent upon the proper functioning of the ovary, which produces essential steroid hormones as well as oocytes which are the foundation for transmission of life. Their quality of life can be seriously reduced in addition to the conception and pregnancy difficulties.

Some of the identifying symptoms and signs are as follows.

  • Anovulatory menstrual periods (bleeding without ovulation) or Irregular or absent periods
  • Infertility or difficulty conceiving
  • metabolic dysregulation resulting in weight gain, obesity
  • Mood swings & depression, mental health problems
  • Excess androgens (testosterone) causing oily skin or cystic acne
  • Hair loss on the head or thinning of hair on the head
  • Hirsutism (particularly facial hair, hair on the chest, back, abdomen, and arms) 


Diagnostic pitfalls

Please note,

  • Polycystic ovaries are not a pre-requisite for a diagnosis of PCOS. The disease was named since many of the women with these symptoms have many small cysts on their ovaries.  Despite the name of the syndrome—polycystic ovarian syndrome, the presence or absence of these cysts on ultrasound does not rule in or rule out a diagnosis of PCOS.  Many women diagnosed with PCOS don’t actually have cysts on their ovaries, so it’s somewhat of a misnomer. In fact, diagnostic criteria for PCOS vary, including no requirement for cysts in the ovaries.
  • While diagnostic criteria of PCOS point to obesity and many people who have PCOS are overweight or obese, not everyone with PCOS is carrying extra weight. As many as 50% of women with PCOS are at a normal body weight. Researchers have identified “profound insulin resistance” in PCOS patients who are normal body weight as well as those who are obese.

There is no doubt that chronic hyperinsulinemia is at the heart of this condition: It is not obesity or high blood sugar that results in PCOS, but rather, hyperinsulinemia that drives the hormonal aberrations in PCOS, with or without excess body fat, and with or without elevated glucose. There are a lot of thin PCOS people who are often excluded from PCOS diagnosis and are regarded as having unexplained infertility.



De Leo, V., Musacchio, M.C., Cappelli, V. et al. Genetic, hormonal and metabolic aspects of PCOS: an update. Reprod Biol Endocrinol 14, 38 (2016) doi:10.1186/s12958-016-0173-x

Agnes Ryu

Agnes Ryu

Dr. Ryu is a clinician and biochemist specializing in integrative medicine. Her clinical interests include fertility, hormones, metabolism, healthy ageing, menopause, and natural breast cancer care. As an integrative practitioner, Dr. Ryu aims to uncover the root causes of health issues and strives to empower patients with the knowledge and tools to take charge of their own health.

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