Challenges in diagnosis and health care in polycystic ovary syndrome in Canada: a patient view to improve health care

We conducted a survey to evaluate the health concerns and health care experience in those affected by PCOS. The survey methodology followed the recommendations of the Checklist for Reporting Results of Internet E-Surveys (CHERRIES) to ensure that this study was conducted in a reliable, reproducible, and transparent manner [39]. The survey was created using REDCap (Research Electronic Data Capture) [40], a web-based application used for electronic data capture, hosted and supported by the Women and Children’s Health Research Institute (WCHRI) at the University of Alberta. It was adapted from a previously published PCOS questionnaire including a range of questions on health care issues and experiences [2]. Our extended questionnaire was pilot-tested in PCOS patient-partners (n = 5) and health professionals who care for those with PCOS (Endocrinologist, Obstetrician-gynaecologist, General Practitioner, Registered Dietitian, Primary Care Nurse) (n = 5) to test adequacy, appropriateness, thoroughness, clarity and understandability of the questions and multiple-choice options relevant to the Alberta Health Care system. The questionnaire included 72 questions in 5 sections; 4 of which are subject of this paper: 1) demographics, 2) PCOS symptoms and diagnosis, 3) follow-up care, 4) overall health concerns and information resources.

Participation in the survey was voluntary and completely anonymous; no identifying information was retrieved. Potential participants were informed that completion would take about 60 min and submission of the questionnaire constituted consent to participate in the study. Participants could choose not to answer questions if they felt uncomfortable to do so. In addition, participants could withdraw at any time from the survey by closing the link. Given the anonymous nature of the survey, once responses were submitted, it was no longer possible to withdraw from the study. The study was approved by the University of Alberta Health Research Ethics Board (Pro0005542).

The survey was undertaken in individuals in Alberta, Canada who self-identified to have PCOS. It was openly distributed by link through social media, various patient registries and research-focused websites, including: PCOS-Together website and the Alberta SPOR SUPPORT Unit (AbSPORU) registry [41‐43]. Responses were collected online into the REDCap database during January 2021 to June 2022. One duplicate entry was identified and was removed from analyses.

Data was exported from REDCap to Microsoft Excel for analysis. For the current study we focused on the survey data that were relevant to provide insight into the experience of PCOS symptoms, diagnosis and the individual health care journeys through the health care system. Descriptive statistics were applied to categorical and continuous data. Categorical data was expressed as number and percentage of responses to each question. Continuous data was reported as mean ± standard deviation (SD). Patient-reported height and weight were used to calculate BMI, and age at the time of survey completion was calculated based on year of birth. Open questions were analyzed using qualitative content analysis and inductive coding methodology [44]. Textual data from answers was organized into codes and integrated into broader categories to generate themes. Themes were reviewed and agreed upon by three independent reviewers. Themes were supported by adding examples of quotes in response to the open-ended questions.

Survey respondent demographic characteristics are summarized in Table 1. Of the total 222 respondents, 198 completed the survey and 194 responses were included in the results based on residence in Canada. Respondents mostly resided in the province of Alberta, 93%, at the time of survey completion. The majority (90.7%) of respondents were born in Canada and 9.8% were immigrants to Canada. While 187 (96.4%) stated to have received a PCOS diagnosis, 7 (3.6%) suspected to have PCOS, but did not receive a clinical diagnosis. All respondents identified as of the female gender, except for one non-binary respondent. In addition to identifying as a female, 4.6% disclosed a LGBTQ + identity. Most of the participants (84.5%) were Caucasian/White and 13.9% self-identified as a member of a minority group. A proportion (18.6%) reported to have a disability. The average of the self-reported height and weight was 166 ± 7 cm and 96 ± 27 kg, with an average body mass index (BMI) of 35 ± 9 kg/m² (Table 1). The calculated BMI for the majority of participants (77.5%) met the criterial cut-off for obesity with a BMI > 30, while 7.7% were overweight with a calculated BMI between 25 and 30 kg/m², and 14.8% had a BMI < 25 kg/m².

Respondents’ socioeconomic attributes are outlined in Supplementary Table 1 (Supplementary Table S1). Most respondents (76.8%) had education after high school including a certificate, graduate, or postgraduate degree. The majority of the participants were employed and about half (45.9%) reported an annual household income between 30,000 and 80,000 CAD. While 60% of respondents did not have children, 36.6% had between 1 and 3 children and 6 reported having 4 or more children. The majority of respondents, 75.8%, lived with a partner with or without dependents and 45.9% lived in very large population urban centres, defined as a centre with a population of 500,000 or more (Supplementary Table S1).

Comments on information and resources provided were explored in open questions (Table 4). Of the survey respondents, 62% provided answers with regard to information received at the time of diagnosis and 59% provided feedback related to follow-up care.

Survey questions were designed to explore how respondents would improve their health care, the health care system and how patients with PCOS could be supported. More than 70% of respondents suggested ‘better access to health professionals’ and to ‘provide more educational material’ for PCOS. Access to a registered dietician and educational material on nutrition were ranked as high priorities (Table 5). Respondents also suggested a PCOS information website (61.9%), inclusion in research studies (60.8%), patient education forums (46.9%) and regular updates on PCOS health information (38.7%). In open comments, one third of respondents suggested provision of more resources and supports, and improved information and treatment options. Clinician training (25.5%), prompt referrals to specialists (19.0%) and a call for more compassion and understanding (16.8%) emerged as themes in open-comments (Table 6).

The advice, the respondents would provide to a newly diagnosed individual with PCOS to help guide them through the health care system in Alberta, included self-help initiatives such as self-advocacy, self-research and asking for help (52.2%). Asking questions to get more information and receive more care options was advised by 27.9%, and 23.5% suggested getting a second opinion from another physician or specialist. Respondents (14.7%) also considered it important to ask for a referral to a specialist, while 12.5% highlighted the need for social support, finding someone who would listen or joining PCOS support groups. Maintaining a healthy lifestyle such as eating healthy food and listening to your body emerged as a theme in 9.6% of respondents (Table 6).

Our study participants reported a protracted PCOS diagnosis that occurred at an average age of 23 years and took on average greater than 4 years following the first physician consultation for PCOS-related symptoms. The delay in diagnosis may be attributable to insufficient medical training of physicians in women’s health issues related to menstruation and PCOS specifically, and a lack of referral to endocrine and women’s health specialists [33, 47]. Our data is consistent with other reports of a protracted diagnosis of PCOS taking greater than two years, and associated with multiple visits to health professionals and examination by three or more physicians before a diagnosis [2, 30, 48]. It is not clear whether these diagnostic delays are associated with a lack of physician education and training about PCOS and diagnostic criteria. For instance, there were 35 respondents whose diagnoses took 10 years or more from the first physician visit concerning symptoms. Of those, 10 respondents questioned their physician’s knowledge of PCOS and stated that they thought the physician dismissed their symptoms. A study conducted in Australia and North America revealed physicians had significant gaps in the knowledge of PCOS, diagnostic criteria and related comorbidities [49, 50]. The importance of a timely and early diagnosis in a young individual affected by PCOS has been determined as necessary for effective intervention and management to prevent further deterioration in mental and physical health [3, 37].

In addition to a protracted diagnosis, over 70% of respondents reported a lack of information about PCOS at the time of diagnosis. This finding is consistent with other studies, using focus groups and surveys, that report information provided at diagnosis was not sufficient to allow for improved knowledge and effective self-management of PCOS symptoms [2, 46, 48]. Information and resources on basic anatomy of the reproductive system, PCOS symptoms, potential treatments for a range of symptoms and other health risks are important to provide at diagnosis to enable patients to self-manage and improve knowledge of their disease, as recommended in the international guidelines [3]. A PCOS diagnosis can lead to self-imposed diet-lifestyle changes or treatments that create additional anxiety and stress; therefore, appropriate personalized health communication of information about PCOS and resources at the time of diagnosis are important [51]. A sensitive-personalized approach to communication of a diagnosis and information about PCOS has been recommended to avoid unnecessary stress and anxiety associated with a fear of infertility and other health risks when receiving a PCOS diagnosis [3, 52]. For example, a fear of infertility or an expectation of infertility following a PCOS diagnosis may lead to individuals with PCOS not using contraception resulting in unplanned pregnancies [51].

Many respondents reported that at the time of diagnosis they were not provided with a follow up treatment plan, and follow up health care was dependent on their immediate to short-term plans to have children. If they were not planning to become pregnant in the short term, the need for follow-up care was dismissed and delayed. Therefore, these individuals did not receive the necessary care required to assess cardiometabolic risk factors and risk of serious co-morbidities such as Type 2 Diabetes and cardiovascular disease, which are recognized in the international guidelines as important to address in management of PCOS [3, 53, 54]. Respondents stated follow-up health care should not be restricted to periods related to childbearing. These findings were consistent with a Canadian study reporting that patients were dismissed and deferred by their physician to follow-up care until planning to become pregnant [47]. Those with PCOS have an increased risk of pregnancy complications such as gestational diabetes and pre-eclampsia, and post-partum risk for diabetes and cardiovascular disease. Therefore, early intervention to target cardiometabolic risk factors following a diagnosis of PCOS is strongly recommended [3, 55, 56].

Of note, 57% of respondents considered it important receive or have better access to mental health services such as psychologists. However, only two respondents were referred to a psychologist/psychiatrist in a follow-up visit and only one respondent was seeing a psychologist/psychiatrist regularly at the time of the survey. This is concerning given the established evidence of increased depression, anxiety, eating disorders and other mental illnesses in those affected with PCOS [3, 8, 57‐59]. Prime symptoms that appear to be associated with depression and anxiety include acne, hirsutism, obesity and infertility. These psychiatric morbidities greatly impact quality of life in those with PCOS [3, 60]. In addition, depression and anxiety can impede an individual’s ability to follow challenging recommendations such as diet-lifestyle interventions to target body weight. Depression and anxiety in those affected by PCOS are also risk factors for eating disorders [8, 18, 61‐63]. Thus, routine screening for mental illnesses including anxiety, depression and eating disorders at the time of PCOS diagnosis or during follow-up care and referral to psychiatric counselling is recommended for those with PCOS [3, 8, 57, 58].

Lack of follow-up health care management by physicians and referral to other allied health professionals was not the only concern in those with PCOS. Respondents noted that PCOS symptoms may be dismissed and not taken seriously. Other barriers to PCOS symptom management also include time and/or geographical restrictions to be able to access follow-up health care from specialists [64]. In addition, those affected by PCOS may not internalize all information given to them at diagnosis, and may experience low motivation and compliance to follow diet-lifestyle recommendations when they learn their disease has no cure [64].

Therapeutic options for PCOS symptom management vary depending on symptom presentation, and the priorities and needs of the patient [3]. Menstrual dysfunction-acyclicity, hirsutism, acne, alopecia, endometriosis, and fertility concerns can be treated with a range of interventions and pharmaceuticals including oral contraceptives and anti-androgens [3, 20]. At diagnosis, less than 25% of respondents indicated that they were provided prescriptions for treatment of PCOS symptoms. Of these, the highest number of prescriptions (18%) were for oral contraceptives, including combined estrogen/progestin and progestin-only contraceptives and a variety of non-oral hormonal contraceptives. Oral contraceptives are commonly prescribed for those not considering becoming pregnant to treat the primary concerns of menstrual irregularities and hyperandrogenism [3, 65, 66]. Metformin was prescribed in 8% and 44% of respondents at diagnosis and at follow-up clinic visits, respectively, to target insulin resistance and pre-diabetes risk, androgen production, cardiometabolic risk factors and reproductive concerns [67‐70]. Respondents also reported pharmaceutical treatment for specific symptoms such as Spironolactone for hirsutism, Finasteride for alopecia, and Accutane for treatment of acne. Respondents reported that they felt there were limited treatment options for PCOS symptoms and oral contraceptives were offered as a first-line treatment, however this was not necessarily a preferred treatment option by respondents.

A general lack of information and resources was identified by many respondents as a barrier in effective management of PCOS at diagnosis and follow up. This included primarily a lack of verbal information or informative material for patient education and management options, access or referral to allied health care professionals, specialists and peer support groups. There was also the sentiment that general practitioners were not sufficiently educated about PCOS to satisfactorily inform them about disease management. These findings are similar to global reports in which those affected by PCOS describe not adequately being informed by their health care practitioner, or were not referred to relevant sources of information at diagnosis, leading to overall dissatisfaction with their health care [2, 30, 31]. In other studies, it was also reported that patients were not satisfied with information provided or available on medical therapies, lifestyle management, long-term complications, and potential infertility [46]. In our study and in other reports, those with PCOS are scarcely informed about cardiometabolic risk factors and long-term morbidity risk including dyslipidemia, insulin resistance, pre-diabetes, diabetes and cardiovascular disease [71‐73]. For example, a respondent stated her frustration with the lack of information and adequate help as follows: “I am exhausted from constantly fighting with my doctors to help me manage my PCOS diagnosis. At this point, I would rather forgo everything I have accomplished and let this horrible chronic condition progress to a more serious version (ie developing diabetes) so maybe I could get help.”

International recommendations for the management and diagnosis of PCOS indicate that educational resources for patients should be multimodal, comprehensive, evidence-based, and highlight peer support groups [3, 38]. As well, biopsychosocial dimensions such as biological, psychological, and social factors and their interactions should be considered in understanding PCOS illness and its health care delivery. Behavioral and lifestyle interventions need to be guided by expert knowledge and evidence-informed options. Frustration about a lack of information and expert advice can lead to distrust in the health care system and precipitate poor relationships between patients and health care professionals [74]. Establishing a partnership between the health professional and the individual is essential for targeted and appropriate treatment decisions and optimal management of PCOS symptoms and co-morbidities [3, 38].

Respondents reported frequently (82%) relying on internet resources and peer support groups to inform themselves on management options and comorbidity risks in PCOS. In addition, respondents reported the need to advocate for themselves and to request referrals to specialist care. These findings are consistent with another Canadian study which reported a reliance on self-education and self-advocacy by respondents in their PCOS management [48]. A study by Hoyos et al. found that almost all (98%) of survey respondents searched for information about PCOS on the internet [28]. Whilst online support groups are beneficial for peer support, internet and social media forums may not always provide validated and reliable sources of evidence-based information and this information may mis-inform those with PCOS [75, 76].

Our survey results provide evidence for the need to develop better pathways to care for patients at-risk or diagnosed with PCOS in the areas of diagnosis, management, and preventative health care strategies to improve overall health. This would include referral, ongoing care and access to specialist health care services for people living with PCOS in Alberta and Canada.

One of the primary concerns of respondents was the lack of expert information on the reproductive-endocrine physiology of PCOS, on management options, and on PCOS impact as a risk factor for co-morbidities. Respondents attributed the delay in diagnosis to family physicians’ and general practitioners’ lack of expertise in diagnosis and management of PCOS (“More doctors need to know about PCOS! They need to know what blood work needs to be done, from what I've seen, they don't”) and the lack in referral to experts such as endocrinologists and Ob/Gyn specialists (“I think that there should be faster referrals to OB's or GYN'S”). Early diagnosis is essential for proper initiation of an individually tailored management plan. Improvement in diagnosis and initial management may be achieved through increased awareness of PCOS and an enhanced inclusion of diagnosis and management in the education of medical students, general practitioners and allied health personnel (“Maybe more training and compassion from primary care physicians so I don't want to avoid going”). In addition, it is crucial for women with PCOS to be assessed for need of referral after diagnosis to a range of health care professionals in order to initiate effective intervention early and reduce risk of developing morbidities such as diabetes. In addition, timely and informative care and evidence-based knowledge about endocrine-metabolic disorders and risk of cardiovascular disease or diabetes, would help to engage and prepare respondents in managing their health care (“I would have appreciated more accurate and useful information at a young age”).

Many of the concerns at follow-up among our survey respondents are similar to those at diagnosis, for example the lack of adequate information and continuous care with regard to follow-up and referrals to experts. Considering that there is currently no cure for PCOS, providing continuous medical care and diet-lifestyle advice is necessary to manage symptoms and development of co-morbidities. Because of the diversity of physical and mental symptoms, the health care of individuals with PCOS should include a variety of experts such as endocrinologists, obstetrician/gynecologists, dietician/nutritionists, physiotherapists/exercise specialists, psychologists/psychiatrists and other additional allied health care workers as requested (“Refer to specialist that can provide adequate resources and information on PCOS”). Information from the international evidence-based guidelines emphasize the importance of accessible evidence-based information and multidisciplinary support in the management of PCOS [3].

An optimal solution would be to establish specialized multidisciplinary PCOS clinics as suggested by respondents (“Have all the help needed for PCOS in one clinic; endocrinologist, gynecologist, naturopath, dietitian, acupuncture, psychologist, hair removal clinic, and counseling. “and “I hope there will be a center where this condition is addressed so we could have better chances of results being processed on a timely basis. “). A specialized PCOS clinic would provide wholistic health care and access to a variety of appropriate health care professionals including clinicians and allied health care workers in one location, similar to interdisciplinary clinics established for diabetes and obesity.

Based on survey respondents’ recommendations to improve health care for those with PCOS, we have a proposed a patient centered model of care, outlined in Fig. 2. Such care could be provided at multidisciplinary, specialized PCOS clinics and/or involve better co-ordination and resource allocation of existing services.

The survey is based on a published questionnaire used in those with PCOS [2, 30] and expanded to include more questions, and was adapted to the Canadian health care system. Therefore, the survey results may not be generalizable to other countries and/or health care systems. Our survey was adapted in collaboration with patient-partners and health care professionals that diagnose those at risk for PCOS and manage those affected by PCOS. A pilot survey was tested with a focus on the Alberta health care system which may be a limitation in applying to other countries or provincial health care systems. The sample size was small for a population-based survey and multi-variable analyses. However, the sample was sufficient to gain insight into health concerns and for a qualitative thematic analysis of answers to open questions. A limitation is that respondents may have recall bias depending on the time frame of first symptoms, diagnosis and clinician visits. The survey is based on a self-reported diagnosis of PCOS and was not verified with medical records due to the anonymous nature of the survey. However, the anonymity of the survey is an advantage for respondents to safely and openly share their perceptions and experience in the health care system. We also cannot exclude the possibility of a sample bias towards those who were more dissatisfied with their health care experience. The questionnaire was only provided in the English language, further limiting the collection of data from a more diverse population of those affected by PCOS in Alberta and Canada. Our study participants were predominately Caucasian (70%) and 20% were immigrants to Canada, therefore data may not reflect the diverse ethnic groups including indigenous groups in Canada, and future studies could be aimed to address this limitation. The internet-based delivery of the survey and advertising of the survey through social media may have also reduced the diversity of survey respondents due to limited access. In this study, we did not investigate the relationship between intersectional factors and how these may impact health and health care experience including gender, ethnicity, socioeconomic status, family history, family dynamics, work and childcare [77, 78].

The strength of the survey lies in the comprehensive questions encompassing all steps of the PCOS health care journey from first symptom experience via diagnosis and follow-ups to lifetime management of the disease. The survey provided sufficient questions with yes/no answers and answers from a variety of drop-down choices; as well it allowed respondents to voice their opinion in open questions; together, this yielded an overall image of the perceptions and experience of those affected by PCOS in the health care system in Alberta, Canada. We also provided opportunity for reflection on barriers and challenges in the health care system and respondents were able to consider suggestions for improvements in pathways to care for those affected by PCOS.