Advances in medical technology make it easier to detect disease earlier than ever. That’s a good thing when it means a deadly cancer can be caught promptly and stopped with treatment. But it isn’t so good for people who are labeled with a disease that has mild symptoms, if any, and only a low risk of getting worse. Such a diagnosis may do more harm than good, especially if the diagnosis adds an emotional burden and doesn’t change an individual’s treatment.
Take polycystic ovary syndrome, also known as PCOS, one of several overdiagnosed conditions we study. Symptoms of this hormonal and metabolic disorder include menstrual irregularities, not ovulating during a menstrual cycle, the presence of polycystic ovaries (enlarged ovaries that contain numerous small follicles that contain immature eggs) and signs such as acne and excess facial and body hair that the body is producing too much testosterone and other androgens. PCOS can be a cause of infertility and has been linked to the development of type 2 diabetes and potentially to cardiovascular disease.
In 2003, a meeting of experts in Rotterdam, Netherlands, expanded the criteria for diagnosing PCOS. That decision resulted in the inclusion of women with milder forms within the broadened spectrum of PCOS and contributed to a substantial increase in the number of women diagnosed with it. Estimates of this increase vary, and are influenced by factors such as ethnicity and the amount of obesity in the population. In a sample of Australian women, for example, the broadened criteria contributed to an estimated doubling of the number of women diagnosed with this condition, from around 9 percent to about 18 percent. However, not all women fitting the expanded criteria for the syndrome may be at risk for infertility, diabetes, or cardiovascular disease.
Symptoms suggestive of PCOS tend to emerge in adolescence. Making an accurate diagnosis during this life stage, however, is challenging because symptoms such as menstrual irregularity overlap with the normal signs of pubertal development. Just as important, there is no clear line dividing normal variability from the abnormality of PCOS, especially in young women. For instance, polycystic ovaries are often seen in women without PCOS. Symptoms can also change over the lifespan, vary in severity, and may be transitory for some women.
A few studies in different populations found that prevalence of the syndrome peaks between the ages of 20 to 25 years then rapidly decreases, suggesting that many women may “grow out of PCOS” by the time they are in their 30s.
The label of PCOS can have physical and emotional consequences for women. Wendy (not her real name) was 14 years old when her doctor said she had polycystic ovary syndrome. She was told she might have difficulty conceiving if she wanted to have children, and should lose 10 pounds — even though she was at a healthy weight — in order to preempt future weight gain. “It was quite a dramatic thing to tell someone so young that they may be infertile and to lose weight, which would have made me underweight,” says Wendy, now 24 years old.
For some women, a diagnosis of PCOS is appropriate and beneficial, such as among those with severe symptoms and those at increased risk of type 2 diabetes. For others, though, the potential impact of a diagnosis on psychological well-being should not be underestimated. As we wrote recently in the BMJ, we are concerned that women with mild PCOS symptoms or those at low risk of future illness may be getting a lifelong diagnosis that could do them more harm than good, inducing unnecessary fear and anxiety about future fertility and long-term health.
Women with PCOS have higher levels of depression and anxiety, poorer self-esteem, negative body image, disordered eating, and decreased sexual satisfaction. What we don’t know is whether these are solely due to the condition and its symptoms, or also stem from the psychological effects of being labeled as having PCOS.
Abigail was 28 when her general practitioner told her she had polycystic ovaries and may never be able to conceive. The diagnosis pressured Abigail and her partner to talk about having children at a time when they weren’t ready for it, which ultimately resulted in their separation. The diagnosis left Abigail feeling depressed and questioning her life choices. Later on, once she and her subsequent partner decided to have a family, she conceived straight away and now has two happy, healthy children. “I thought I was barren, never to have a child naturally. But the reality was, OK, I have this condition that might make conceiving tricky,” she said at age 45. “And when I fell pregnant the first time with my husband, I thought to myself, all those years of underlying background worry, eating away at me was a complete waste of time!”
All doctors are taught the maxim “First, do no harm.” However, there is an increasing body of evidence suggesting that overdiagnosis and giving people disease labels does cause harm and can fundamentally affect their well-being. The problem of widening disease definitions is a concern for many other conditions, such as osteoporosis, gestational diabetes, and hypertension, where people with lower risk of consequences receive permanent disease labels and lifelong treatments that might cause more harm than benefit.
We recently conducted a systematic review of how different terminologies used for the same condition can affect patients’ expectations. Although all identified studies were hypothetical, the results show that when clinicians use a more medical or precise label, people tend to want more invasive treatments, experience heightened anxiety, and perceive the condition as more severe. This suggests that when people are told they have a disease, they might start thinking of themselves as sick or abnormal, changing their behavior and sense of well-being.
Although the exact mechanisms for that remain unclear, disease labels have important implications. Health care providers need to make sure that there are solid grounds for, and clear benefits of, labeling a patient with a diagnosis before we start doing it more often.
Tessa Copp is a Ph.D. candidate in the School of Public Health at the University of Sydney, New South Wales, Australia. Kirsten McCaffery is a professorial research fellow and behavioral scientist in the School of Public Health at the University of Sydney. Jenny Doust is a general practitioner and professor of clinical epidemiology at Bond University, Queensland, Australia. Jolyn Hersch is an early career researcher in the School of Public Health at the University of Sydney. Jesse Jansen is a senior research fellow and cognitive psychologist in the School of Public Health at the University of Sydney.
I disagree with this article so much…I suspected this in our little girl through so much of her childhood, and her regular doctor just brushed it off. When I finally took her into the hospital and demanded she be tested at age 16 after not having her period more than two days in three years, they tested and told us she didn’t have PCOS. We were relieved, and sought different answers and solutions for many years. Getting pregnant was so difficult for her, and she finally had a baby, along with multiple miscarriages along the way. Turns out, yes, she DID and DOES have PCOS…and it’s really hard not to be angry about the first misdiagnosis, as I feel early treatments may have helped her. She has gone through so much…and just had her second child five years after her first. He is in the NICU right now fighting sepsis. We are praying like mad he makes it, as if he dies, she may just fold.
Wouldn’t it be best to just err on the side of caution?
I really appreciate this article and feel that the medical community is over diagnosing PCOS for the means of assigning ICD codes and other treatment options for fertility. The increase of PCOS diagnoses seems to coincide with the that of the infertility specialty and IVF was on the rise. With the solution being IVF not so much in treating true PCOS.
PSOC is misunderstood in that it is solely a diagnosis that inhibits infertility while really it is multipronged syndrome.
We now have a diagnosis coined as “Lean PCOS” which is a slap in the face for those of who struggle losing weight, experience acne, and have excessive hair. It is a very unattractive syndrome and being lean isn’t one of them.
Sorry, but I’m going to have to strongly disagree with your statement on lean pcos. You write that pcos is not just about infertility and is a multipronged syndrome. Why do you assume women who are leaner are not being affected by all of the other prongs of the syndrome just because they don’t have the weight gaining symptom? I have lean pcos and have severe androgenetic alopecia, which started at a young age, I also developed type 2 diabetes in my late 20s despite having no family history and never having an issue with weight. I’m sorry, but the medical community failed me by telling me there was no way I could have pcos despite balding like a man with elevated androgens because I was too skinny. Now I have diabetes for the rest of my life and an ultrasound was finally performed to show enlarged polycystic ovaries and adenomyosis. I was given the diagnosis of lean pcos, which according to you is a slap in the face. My life long diabetes despite my low weight is a slap in the face to you. I know many overweight women with pcos who do not have diabetes. It is a syndrome. You may not get every single hallmark feature and many of us may not even have the same disease at the end of the day! PCOS is an umbrella term and it is used to avoid situations like mine. Please do more research before leaving offensive exclusionary comments.
Great article, thank you. First, I definitely do not think that you undermine the experience of women who do have PCOS and waited for many years to receive a diagnosis. Just the contrary, the article argues for the need to be more careful in considering all the symptoms and personal history. As someone diagnosed with ‘lean PCOS’ while also having a history of hypothalamic amenorrhea, I truly appreciate your note on the psychological aspect of a diagnosis. The hypothalamic amenorrhea vs PCOS conundrum is especially challenging, and the two conditions are often confused, while the lifestyle strategies they imply are very different. Also, the two consitions can co-exist, and this is the most challenging case, because the popular ‘lose weight and exercise more’ advice is totally unappropriate and dangerous for a woman who has or had hypothalamic amenorrhea. It would be great if you could cover this topic, too.
Interesting blog, good information is provided regarding polycystic ovarian syndrome complications. Was very useful, thanks for sharing the blog.
Interesting blog, good information is provided regarding pcos diagnosis. Was very useful, thanks for sharing the blog.
Interesting blog, good information is provided regarding pcos diagnosis. Was very useful, thanks for sharing the blog.
As someone with PCOS, I find it disheartening that the authors if this piece would suggest that there is a problem with over diagnosing PCOS. The opposite is actually true. MANY women, like myself goes years with symptoms that can’t be explained looking for a reason why we gain weight, can’t lose weight, don’t have regular periods, can’t get pregnant, are losing our hair or gaining an overgrowth of facial hair, etc. It took many years, until I was 29, to get a diagnosis and only after being told by multiple doctors I gained 100 pounds in a year because I was eating too much and not exercising enough. Which wasn’t true. Nothing had changed in either my diet or my exercise habits. And all the higher levels I experienced of depression and low self esteem, etc. weren’t because of the diagnosis. They were because of a lack of a diagnosis. My diagnosis gave me the ability to take charge of my health. The criteria were expanded because many women were being left out of a diagnosis they did correctly fit in. It surprises me these health experts aren’t aware of that.
It should also be noted women don’t “grow out of” PCOS. It is genetic. It affects everyone differently and some women see a lessening of symptoms when treating it through diet and exercise, as that is the only real treatment for it.
PCOS is a syndrome that can cause a myriad of severe health issues – infertility, a great risk of certain cancers, heart disease and strokes. Anyone with a diagnosis knows that these increased risks don’t mean you’ll have these problems. However, I’d rather know what I’m at risk for so I can make lifestyle changes or work with a doctor to lessen my chances for these things.
Thank you for sharing your experience, Moira. It is not our intention to undermine the experience of women like you who have suffered from delayed diagnosis. As you point out, unexplained symptoms and a delayed PCOS diagnosis can cause significant distress, and we agree that prompt, accurate diagnosis is vital for women with severe PCOS symptoms.
In our article, we describe how PCOS is a complex syndrome on a continuum of severity. We are concerned that the current diagnostic criteria also include women with symptoms that are mild or transitory, and who are not at increased risk of associated health issues but might experience psychosocial harm as a result of the diagnosis.
We argue for a more tailored, women-centred approach to diagnosis so that we can reduce underdiagnosis as you have experienced, as well as overdiagnosis. This will hopefully ensure that women who are affected by severe symptoms will receive an appropriate and timely diagnosis of PCOS, while we minimise the harms of unnecessarily labelling healthy women who are not likely to benefit from a diagnosis.
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