Diagnostic criteria for diagnosing polycystic Ovary Syndrome (PCOS)
Polycystic Ovary Syndrome (PCOS) is a silent struggle for many women worldwide, impacting up to 13% of women of reproductive age, yet often overlooked and misunderstood.
The journey to a PCOS diagnosis is anything but straightforward and there is no single test. It's filled with uncertainty, frustration, and unanswered questions due to the wide variation in symptoms among women and the evolution of diagnostic criteria over the years.
I know this journey well because I've walked it myself. The whirlwind of irregular periods, hormonal fluctuations, and endless doctor appointments is a familiar story for many of us.
We find ourselves lost in a sea of symptoms, desperately searching for answers. And we're not alone. In fact, up to 75% of women with PCOS may remain undiagnosed, struggling with symptoms without clear answers or a proper diagnosis.
This blog post will take you on a journey through the history of PCOS diagnostic criteria, from its early days to the latest standards used today. By exploring how diagnosis methods have evolved, it will give you an understanding of why diagnosing PCOS can be so complex.
I aim to help women like you feel more confident and informed as you navigate your PCOS journey. Remember, your struggle isn't a reflection of your worth—it's the complexity of the condition itself.
So let’s dive in!
Understanding Polycystic Ovary Syndrome (PCOS)
Polycystic Ovary Syndrome, commonly known as PCOS, is a hormonal disorder that affects women of reproductive age. It is estimated that approximately 1 in 10 women may have PCOS. This makes it one of the most common endocrine disorders among women of childbearing age.
PCOS presents a range of symptoms and challenges, that impact various aspects of a woman's life. For a deeper dive into the possible causes, symptoms, and treatment options of PCOS, check out my previous blog post on this topic here.
Definition and Prevalence of Polycystic ovary syndrome
PCOS is characterized by an imbalance of reproductive hormones, leading to various symptoms such as irregular menstrual periods, excess androgen levels, and multiple small cysts on the ovaries.
While the exact cause of PCOS is not fully understood, factors such as genetics and insulin resistance are believed to play a role in the development of the condition. In addition, women with PCOS often experience metabolic syndrome, obesity, infertility, and an elevated risk of pregnancy complications and long-term cardiovascular issues.
Symptoms of PCOS
Women with PCOS may experience a range of symptoms that can impact their physical and emotional well-being.
Common symptoms include irregular periods, acne, weight gain, excess hair growth, and infertility.
Beyond the physical symptoms, PCOS can also increase the risk of developing other medical conditions such as type 2 diabetes, high blood pressure, and heart disease.
Managing PCOS requires a multifactorial approach that considers various aspects such as symptoms, medical history, laboratory tests, and imaging results to reach a diagnosis.
This approach acknowledges that PCOS is influenced by a combination of genetic, hormonal, metabolic, and environmental factors, and therefore requires a comprehensive evaluation to understand and manage effectively.
The Evolution of PCOS Diagnostic Criteria
It all began back in 1935, Stein and Leventhal conducted groundbreaking research, laying the foundation for understanding PCOS. They delved into the complexities of PCOS in a case series featuring seven women who shared common traits like hirsutism, obesity, amenorrhea, and ovaries that had numerous small follicles. This research led to the identification of Stein-Leventhal syndrome. As time passed, the diagnostic criteria evolved, embracing a broader spectrum of women beyond the initial focus of Stein-Leventhal syndrome.
How do we diagnose PCOS?
In 1990, the National Institute of Child Health and Human Development developed the first criteria for diagnosing PCOS, requiring 2/2 characteristics to be present:
Clinical or biochemical hyperandrogenism and,
Oligo/Anovulation
A debate persisted about what should and shouldn't be required for a diagnosis until 2003 when 27 PCOS experts from both the European Endocrine Society and American Society ASRM produced the "Rotterdam Criteria" This expanded the criteria to include Polycystic Ovarian Morphology (PCOM) which is the presence of ovarian cysts identified on an ultrasound. For a diagnosis, 2 out of 3 characteristics were required:
Clinical/Biochemical Hyperandrogenism
Oligo/Anovulation
Polycystic Ovarian Morphology (PCOM)
This shift in the criteria aimed to capture the various presentations of PCOS, recognizing that some individuals might have elevated androgens and Oligo/Anovulation but not necessarily PCOM which resulted in a significantly increase PCOS diagnosis.
In 2006 there was another attempt to define the criteria by the Androgen Excess Society (AES) again making hyperandrogenism central to the diagnosis of PCOS while affirming the relevance of ovarian morphology in the diagnosis of this syndrome. The diagnostic criteria came back to requiring 2 out of 2 characteristics for a diagnosis, somewhat related to the 1990 NIH criteria:
Clinical/Biochemical Hyperandrogenism
Oligo/Anovulation or PCOM or both
The presence of multiple classification systems resulted in clinical confusion and was viewed as delaying scientific progress in our understanding of PCOS.
In 2012, a consensus was reached by the NIH, in which experts on PCOS again recommended the use of the broader 2003 Rotterdam criteria but also to include phenotypes:
Use Rotterdam criteria (women need to have 2 of 3 Rotterdam criteria for a confirmed diagnosis) and
Include specific phenotypes.
What are these phenotypes?
Phenotype A: known as classic PCOS
High androgens/androgenic signs
Irregular periods/delayed ovulation
Polycystic ovaries
Hyperandrogenism
Olig/Anovulation
PCOM
Phenotype B: classic PCOS
High androgens
Irregular periods/delayed ovulation
Normal ovaries
Hyperandrogenism
Olig/Anovulation
Phenotype C: non-classic PCOS
High androgens/ androgenic signs
Regular periods: 35 days or shorted cycles/ovulation
Polycystic ovaries
Hyperandrogenism
PCOM
Phenotype D: non-classic PCOS
Normal androgens
Irregular periods/delayed ovulation
Polycystic ovaries
Olig/Anovulation
PCOM
We'll delve into these phenotypes in more detail in an upcoming post, but for now, let's take a closer look at the Rotterdam criteria.
Current Recommendations: Rotterdam Criteria of PCOS
The Rotterdam criteria suggest diagnosing PCOS if any two of the following three criteria are present:
clinical or biochemical hyperandrogenism
Oligo/Anovulation
PCOM, with the exclusion of other relevant disorders.
Breaking down the Rotterdam criteria, we can see that meeting two out of three criteria indicates a diagnosis of PCOS, let's explore each in more detail to grasp the complexities involved in getting a diagnosis.
Clinical or biochemical hyperandrogenism
Clinical hyperandrogenism involves examining signs and symptoms related to excess androgens without relying solely on blood tests. One common marker is hirsutism, characterized by male-pattern hair growth. Healthcare professionals often use the modified Ferriman–Gallwey score to assess the severity of hirsutism. However, it's important to note that scoring can vary among professionals, and personal factors like hair removal treatments or ethnic background may influence the results.
Hair loss and acne are also common concerns for women with PCOS, both associated with elevated male hormone levels. Interestingly, only about one-third of women with female pattern hair loss have increased androgen levels. While the Ludwig visual scale is often used to assess female pattern hair loss, there isn't a widely accepted visual assessment for acne. It's crucial to acknowledge that while these features commonly affect women with PCOS, they may not be the most reliable indicators for confirming the condition.
Biochemical hyperandrogenism: This aspect involves assessing blood for elevated levels of androgens. A diagnosis is suggested if the levels surpass the normal reference range and reference ranges can vary depending on the laboratory used. Tests typically include measuring testosterone, either total or free, as well as other hormones associated with androgen production, such as DHEAS and ANSD.
Oligo/Anovulation
Oligo/Anovulation refers to irregular or absent menstrual cycles. Oligo indicates infrequent or irregular menstrual periods, typically defined as cycles lasting longer than 35 days apart or fewer than eight cycles per year. Anovulation, on the other hand, refers to the absence of menstrual cycles within six months.
In the context of PCOS, oligo/anovulation is a crucial feature contributing to the reproductive and hormonal imbalances experienced by women. Irregular menstrual cycles, often exceeding 35 days or occurring less than eight times a year, serve as a key marker for ovulatory dysfunction, aiding in the diagnosis of PCOS. For those with an uncertain menstrual history, confirmation of ovulation can be achieved through serum progesterone evaluation or luteinizing hormone testing.
Polycystic Ovarian Morphology (PCOM):
This criterion is defined as either having 20 or more follicles per ovary or an ovarian volume of 10 cm3 or more on either ovary, using newer transvaginal ultrasound technology.
The Rotterdam criteria continue to be the most widely used and accepted criteria for diagnosing PCOS and were unanimously supported in the 2023 International Evidence-Based Guideline for the Assessment and Management of PCOS.
Differential Diagnosis and Testing
To ensure accurate diagnosis, your healthcare provider will rule out other conditions that could cause menstrual irregularities and hyperandrogenism. These may include:
Thyroid disease
Hyperprolactinemia
Congenital adrenal hyperplasia
Hydroxyprogesterone
Hypogonadotropic hypogonadism
Ovarian failure
Cushing's disease
Androgen-secreting tumours
For women suspected of having PCOS, initial screening typically involves several blood tests covering various areas:
Thyroid function tests
Serum prolactin levels
Total and free testosterone levels
Free androgen index
Serum hCG levels
Cosyntropin stimulation test
Serum 17-hydroxyprogesterone levels
Urinary free cortisol (UFC) and creatinine levels
Low-dose dexamethasone suppression test
Serum insulin-like growth factor (IGF)–1 levels
Additional tests such as:
Androstenedione levels
FSH and LH levels
GnRH stimulation testing
Glucose levels
Insulin levels
Lipid panels
Imaging studies (ovarian ultrasonography, pelvic CT scan, or MRI)
Diagnosis Experience
Navigating the path to a PCOS diagnosis poses significant challenges for individuals. According to research conducted with 1381 women about their PCOS diagnosis experiences, almost half consulted with three health professionals before receiving a diagnosis, with the process spanning an average of two years.
Unfortunately, only 35.2% expressed satisfaction with their diagnosis experience, and a mere 15.6% felt content with the information provided about PCOS at the time of diagnosis. More than half reported a lack of information regarding long-term PCOS complications and emotional support during this critical period.
Like myself, you may have found navigating the diagnosis of PCOS emotionally challenging, leaving you with concerns for your health and fertility. It's disheartening that the majority of women receiving a diagnosis feel that they either receive no information or inadequate information.
Understanding the complexities and potential delays in the diagnosis process, which can extend to two or more years for a substantial portion of women with PCOS, underscores the importance of providing timely and comprehensive support.
Thats all for now, I hope this post helped you gain valuable insights into the complexities of PCOS and its diagnostic journey. If you have any questions or would like further information, feel free to share your own PCOS stories or experiences in the comments.
If you are navigating the challenges of PCOS and seeking support on your journey, I'm here to help. Whether you're facing challenges with diagnosis, or management, my goal is to equip you with the knowledge and resources needed for a healthier life with PCOS. Discover more about my personalised 1:1 services here.
