Six common misdiagnoses for PCOS

Keep reading to learn more about the top six conditions that share overlapping symptoms with PCOS.

The symptoms of polycystic ovary syndrome (PCOS) can often overlap with other health conditions, which may leave you wondering: Do I have PCOS or is it something else?

Approximately 1 in 10 menstruating people have PCOS, making it one of the most common female hormone imbalances. Some symptoms of PCOS include irregular periods, hirsutism, acne, weight gain, infertility, and female-pattern balding, all of which can also coincide with some autoimmune, reproductive, and hormonal conditions. (1). 

Especially because there are no specific labs drawn for a PCOS diagnosis, it’s important to rule out other conditions that share symptoms with PCOS to avoid a misdiagnosis. 

In this article, we will be going over the six most common misdiagnoses for PCOS, what they are, and how you can rule them out. 

Thyroid issues

PCOS and certain thyroid issues share similar symptoms, so it may be a good idea to have your doctor examine your thyroid to make sure it is not attributing to your condition.  

Your thyroid is a gland that plays a role in many systems throughout the body, but its main purpose is to release hormones to control metabolism, body temperature, and heart rate (2). When it releases too much (hyperthyroidism) or too little (hypothyroidism) thyroid hormone, this imbalance can manifest in several different ways. There are also additional conditions that affect the thyroid, leading to either hyperthyroidism or hypothyroidism, which we will touch base on later in this section.

Symptoms of hyperthyroidism

First, let’s go over the symptoms of hyperthyroidism (3).This is when the thyroid is overactive and releases increased amounts of triiodothyronine (T3) and thyroxine (T4) and lower levels of thyroid stimulating hormone (TSH) (3).

  • Having trouble sleeping*
  • Anxiety, irritability, nervousness*
  • Hair loss*
  • Weight loss
  • Irregular menstrual cycles*
  • Rapid heart rate
  • Muscle weakness or tremors

*Indicates of a PCOS symptom

Some conditions that can lead to hyperthyroidism include Graves’ disease, thyroiditis, and thyroid nodules (3).

Symptoms of hypothyroidism  

On the flip side, hypothyroidism is when the thyroid is under-active and is not producing enough T4 in addition to high levels of TSH. Below are some symptoms of hypothyroidism (4). 

  • Weight gain*
  • Having frequent and heavy menstrual cycles*
  • Feeling extreme fatigue
  • Having dry, coarse hair
  • Intolerance to cold temperatures

*Indicates a PCOS symptom

Conditions that can cause hypothyroidism include Hashimoto’s, postpartum thyroiditis, and thyroiditis (4). 

Note: Thyroiditis is inflammation of the thyroid gland, which can cause the thyroid to release too much or not enough hormones, so that’s why it’s included in both hyper and hypothyroidism!

How can you detect hyper and hypothyroidism?

Although symptoms of thyroid issues can be easily confused with other conditions (like PCOS), there are a few different tests that are available that can detect if your thyroid is under or overactive. Blood tests (including a full thyroid workup), imaging tests, and physical exams can all be used to determine whether your symptoms are caused by your thyroid.

If you have thyroid problems, medication and lifestyle changes can help improve symptoms, but treatment will greatly depend on your specific condition (4).

While thyroid problems can be misdiagnosed as PCOS, it is also possible to experience both hormone issues at the same time. Hashimoto’s and hypothyroidism, for example, are more likely to occur for people with PCOS. Be sure to speak with your physician about this possibility as well! 

Primary ovarian insufficiency (POI)

Another condition that can be mistaken for PCOS is primary ovarian insufficiency (POI). POI is when the ovaries have a decrease production in estrogen while presenting with menopause-like symptoms before the age of 40 (5). It is unclear what exactly causes POI, but research shows it may be linked to genetics and even autoimmune disease.

Symptoms of POI

With a drop in estrogen production, people with POI often experience symptoms that are associated with menopause. Below are some of those symptoms (5).

  • Irregular periods* (POI is characterized by a short follicular phase while PCOS is often characterized by a long follicular phase and possibly short luteal phase)
  • Difficulty with trying to conceive or infertility* 
  • Trouble sleeping*
  • Night sweats
  • Hot flashes
  • Irritability, anxiety, or depression

*Indicates a PCOS symptom

How can you detect POI?

To diagnose POI, a physical and pelvic exam is conducted. High levels of FSH and prolactin can be indicators of POI, so be sure to ask for labs to rule out other conditions. There is no cure for POI, but your doctor may recommend hormone replacement therapy (HRT) and other supplements to lower your health risks (6).

Hypothalamic issues

Next, dysfunction with the hypothalamus can display symptoms similar to PCOS. The hypothalamus is located deep in the brain and is responsible for keeping your body in a stable state through regulating body temperature, blood pressure, hunger and thirst levels, mood, sex drive, and sleep. It does this by working with the autonomic nervous system (which is in charge of automatic bodily functions such as breathing and heart rate) and managing hormones (7). 

Symptoms of hypothalamic dysfunction

If this structure is not working properly, it can have a domino effect on your health due to the vast role it plays in bodily functions. Because of that, some signs of hypothalamic dysfunction do cross over with PCOS symptoms, see below (7, 8).

  • Unusual weight gain or loss*
  • Infertility*
  • Trouble sleeping*
  • Muscle loss or weakness
  • High or low blood pressure
  • Body temperature fluctuations
  • Mood swings

*Indicates a PCOS symptom

Functional hypothalamic amenorrhea

Although there are several different types of conditions associated with hypothalamic dysfunction, we want to bring attention to specifically functional hypothalamic amenorrhea (FHA).

FHA is one of the most common causes of secondary amenorrhea and can be categorized into three different types: weight related, stress related, or exercise related (9). FHA is manifested through chronic stress, which can be a result of restrictive eating or excessive exercise. If you have menstrual cycles lasting longer than 45 days or have amenorrhea for three or more months, you may want to speak with your doctor to be evaluated for FHA (9).

How can you detect FHA?

Like PCOS, there is no test to detect FHA and it is a diagnosis of exclusion (10). Each case of FHA is unique, thus your doctor will likely ask for a full personal history in addition to a physical exam. If it is determined that you have FHA, understanding the root cause of your stress is key to managing the condition. This may mean eating more, limiting intense exercise, and finding effective stress management tools that work for you. 

Congenital adrenal hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is another group of conditions that shares overlapping symptoms with PCOS. CAH is a genetic disorder where the adrenal glands (located on top of each kidney) do not function properly (9, 10). The adrenal glands are part of your body’s endocrine system, which regulates hormone production that is vital to multiple body functions.

CAH affects both males and females and most commonly occurs when a genetic mutation occurs in the gene the enzyme adrenal steroid 21-hydroxylase (9). Without this enzyme, the adrenal glands can underproduce cortisol or overproduce androgens such as testosterone and 17 hydroxyprogesterone (10). This imbalance of hormones will then physically manifest in different ways, which we will discuss in the following section.

Types of CAH

All newborns are screened for CAH through a blood test and it is typically diagnosed in infants and children (9). In some cases, CAH may not be diagnosed until young adulthood until symptoms are displayed. 

When discussing CAH, it is important to identify the two types of CAH that can occur: classic and non-classic. Classic CAH is usually diagnosed at infancy or early childhood and affects up to 1 in 18,000 children and can be life-threatening if not treated. This is the most severe case of CAH where the body does not produce any cortisol, AKA your “fight, flight, or freeze” hormone (11). Cases of classic CAH are rare and can be detected through blood and genetic tests, so that proper treatment can be provided and mitigate future health risks (10).

Non-classic CAH is more common and can affect teenagers and adults. Symptoms tend to be more mild, which is why cases can go undiagnosed until it manifests. This type of CAH can mimic PCOS, which is why we will be focusing on non-classic CAH.

Symptoms of non-classic CAH

For non-classic CAH, the body overproduces certain androgens such as testosterone and 17 hydroxyprogesterone. Symptoms of non-classic CAH can show up as the following (10, 11):

  • Acne*
  • Irregular menstrual cycles*
  • Hirsutism*
  • Male pattern balding*
  • Oily skin*
  • Early puberty

*Indicates a PCOS symptom

How can you detect CAH?

Non-classic CAH and PCOS present in similar ways, but a blood test and genetic analysis can be done to detect both classic and non-classic CAH. Medication is a common treatment for CAH to restore balance, but milder cases may not require any medication (11).

Adrenal gland tumor 

As mentioned above, the adrenal glands play a critical role in hormone production and affect body processes like metabolism, stress, puberty, and more (12). If a mass grows on the adrenal glands, this can cause the adrenal glands to produce excess hormones and cause imbalances within the body. These tumors can be benign or malignant, but even benign tumors can cause uncomfortable symptoms and wreak havoc on the body. It is unknown what exactly causes the growth of the tumor, however experts agree that genetics likely play a role (12).

Symptoms of adrenal gland tumors

Not all adrenal gland tumors cause symptoms. Non-functional tumors do not produce excess hormones and can be missed due to lack of symptoms. However, functional tumors excrete excess hormones and cause symptoms, but will vary depending on where exactly the tumor is located. Below are some of the most commonly reported symptoms (12, 13).

  • Rise in blood pressure
  • Feelings of nervousness and anxiety
  • Unexplained weight gain or loss
  • Weakness
  • Excessive hair growth*
  • Heart palpitations
  • Acne*

*Indicates a PCOS symptom

How can you detect adrenal gland tumors?

If your doctor suspects you have a tumor on the adrenal glands, there are multiple tests that can be conducted to reach a diagnosis. Some tests that may be ordered include blood and urine tests, a biopsy, CT scan, MRI, and/or MIBG scan (12). Depending on the tumor, your medical team may suggest surgery, radiation therapy, medication, or a combination for treatment (13).

Pituitary tumor

The final diagnosis that we’re going to cover are pituitary tumors. Most pituitary tumors are benign, and similar to benign adrenal gland tumors, can still produce excess hormones and throw the body off balance (14). The pituitary gland is located just below the brain and works with other glands within the body to produce and regulate hormone secretion and production that’s responsible for a variety of body processes (15). That’s why dysfunction of the pituitary gland can cause a plethora of symptoms.

Symptoms of pituitary tumors

Like adrenal tumors, pituitary tumors can be functional or non-functional. Symptoms will vary depending on the size of the tumor and whether it falls under the functional or non-functional category. Here are some most common signs and symptoms of pituitary tumors.

  • Changes in menstrual cycles*
  • Infertility*
  • Acne*
  • High blood sugar levels*
  • Nausea
  • Headaches
  • Problems with vision
  • Mood change
  • Weakness
  • Unexplained weight gain
  • Joint pain

*Indicates a PCOS symptom

How can you detect pituitary tumors?

Due to its wide array of symptoms, pituitary tumors can be hard to detect, but can be diagnosed quickly through blood and urine tests and brain scans (16). Treatment is personalized on a case-by-case basis, but generally consists of either surgery, radiation therapy, medication, or a combination.

What does this mean for me?

Experiencing health complications is scary and it can be easy to fall down a rabbit hole trying to self-diagnose your symptoms with all the resources available online. Our goal is to provide you with the proper information to bring to your doctor, so that you can have a productive conversation regarding your health and ultimately receive an appropriate treatment plan that fits your condition and goals. 

PCOS and the conditions we listed above are often misdiagnosed, but understanding each condition can help you advocate for yourself and ask for labs to gain a closer look at what’s going on inside your body!

This information is intended for educational purposes only and not meant to be a substitute for medical advice, diagnosis, or treatment. If you are presenting symptoms, consult with your doctor or other qualified healthcare provider to seek proper care immediately. 


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