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Is your PCOS actually CAH (congenital adrenal hyperplasia)

What is Congenital Adrenal Hyperplasia

CAH is a genetic disorder where your body doesn’t produce an enzyme needed to make adrenal hormones. The disorder can effect your body’s ability to produce adrenal hormones - specifically, you over produce androgens (male sex hormones like testosterone) which is also a hallmark of PCOS.

CAH is genetic and passed down through families, but it’s entirely possible that your parents were carries of the gene and didn’t have the condition themselves.

There are two forms of CAH.

Classic CAH is diagnosed in infants and can be severe.

Non-Classic CAH (NCAH) is found in late teens or early adulthood and some forms can mimic symptoms of PCOS.



How common is NCAH?

In the context of comparing PCOS and NCAH, about 9% of women with high adrogens have NCAH. That means that if you were diagnosed with PCOS based on high testosterone, DHEA, or aldosterone, there is a 9% chance that you actually have NCAH, not PCOS.



How is NCAH diagnosed?

Because the symptoms of NCAH and PCOS are so similar they both should be diagnosed through lab tests rather than symptoms alone.

NCAH is diagnosed through blood work that your doctor will order. It’s not on the usual panel of labs your doctor runs during a check up. If you have PCOS and aren’t sure your doctor has rules out NCAH, talk with them about getting tested.

Your doctor may test:

  • 17-OH progesterone (1)

  • Androstenedione

  • Testosterone

  • ACTH Stimulation Test

The ACTH Stimulation Test is considered the definitive test for NCAH. Your doctor will take a sample of blood, then give you an injection of ACTH (adrenocorticotropic hormone) which is a hormone produced by your brain that tells the adrenal glands to produce cortisol. The adrenals go through about 5 steps to create cortisol. Your doctor will take a new blood sample about 30 minutes later and compare the results with the first blood sample. The type and amount of hormones produced after the ACTH stimulation can reveal how well your adrenals are functioning and if you have NCAH.

Testing should be done during the follicular phase of your cycle. (2)

Genetic testing is not helpful for NCAH, even though it is a genetic disorder. There are over a hundred different mutations of varying degree that can contribute to the disorder, and most of them are not tested on a commercially available tests. (3)

It’s worth knowing that people with certain ancestry have a higher risk of having NCAH, since it’s passed down through families. If you know that any part of your heritage is hispanic, Ashkenazi Jew, Italian, Yugoslavian, or Yupik Inuit, and you have symptoms of NCAH or PCOS, it is worth making sure your doctor has rules out NCAH before receiving a PCOS diagnosis.

What are the symptoms of NCAH?

Common symptoms of NCAH include:

  • Irregular cycles, usually long cycles

  • Missing periods

  • Anovulatory cycles

  • Excess facial and body hair

  • Male pattern baldness in women

  • Slightly deeper voice

  • Acne, especially cystic acne

Do many of those look familiar? That’s because they’re also symptoms of PCOS!

Key symptoms of NCAH that are not as common in PCOS:

  • Growing pubic hair very early, around age 8-9

  • Getting your first period very late, around age 14-15

  • Being very tall as a child but short as an adult

  • Women with NCAH may also show signs of low cortisol like fatigue, anxiety, difficulty handling stress.



How is NCAH different from PCOS?

Both conditions result in high androgens, irregular periods, anovulatory cycles, and annoying symptoms like facial hair. The RESULT of both conditions appears the same. But the CAUSE is different.

Understanding the true cause of your symptoms is the key to having regular, easy periods, no more symptoms, and improved fertility.

PCOS and infertility are results that can have many different causes. This is why many women spend years, even decades, doing seemingly everything “right” but not finding resolution. They never get to the root cause.

Can you have NCAH and PCOS at the same time?

You can have many overlapping symptoms that are common of both. Since there is not a single defined cause of PCOS, you could even say that NCAH is yet another cause of PCOS, along with insulin resistance, thyroid dysfunction, chronic inflammation, etc. Read more about the other causes of PCOS here.

Additionally, you can have NCAH and another issue further contributing to hormonal imbalance, like insulin resistance or thyroid dysfunction.

There is a myth that only women with “skinny PCOS” can have NCAH. This is not true. You can have NCAH with weight gain or without weight gain. You can also have NCAH and insulin resistance at the same time.

How to Manage NCAH naturally

Depending on how severe your NCAH is, your doctor may recommend certain medications or hormone replacement therapies.

Supporting your NCAH naturally is all about supporting your adrenal health.

Eat a good diet

Getting plenty of nutrients is the foundation of health for everyone - and especially when you are helping your body to heal. Avoid processed and refined foods and eat a wide variety of fresh veggies, fruits, nuts, seeds, fats, seafood, and animal protein daily.

Manage Stress

When you have NCAH, your adrenals are already having trouble keeping up. Do your best to avoid stress. This includes physical stress like injury (think sunburns!) and overexercising. It also includes mental and emotional stress like talking negatively to yourself all day, worrying, and trying to control everything.

Drink an adrenal tonic daily

This adrenal tonic gives you all of the minerals your adrenals need to do their jobs.

See this content in the original post
  • 2 cups coconut water (for potassium)

  • 1/2 tsp sea salt (for sodium)

  • 1 tsp acerola cherry powder (for vitamin C)

  • 1 capsule (opened) of magnesium malate, about 250 mg

Get plenty of sleep

Sleep is so important for adrenal health. Sleep is when your body can reset, detoxify, and repair. This is also when your adrenals can rest! Our bodies were not meant to handle the constant stresses of today’s world. Aim for a solid 8-9 hours of sleep.

Conclusion

CAH and PCOS look very similar. Many women are diagnosed with PCOS and wonder why none of the typical advice has worked for them, when in reality they actually have CAH.

I’m a firm believer in taking charge of your health. Get copies of your lab tests. Find out what criteria your doctor used for your diagnosis. It’s through digging deeper that you’ll find the answers that lead the biggest results.

If you’ve been spinning your wheels trying to heal your hormonal imbalance on your own, schedule a free call with Mollie to talk about how nutritional therapy can help you finally get to the root cause of your issues and find resolution.