Endometriosis and MTHFR: A Connection

Endometriosis is a female health disorder that is a chronic, estrogen-dependent inflammatory disease characterized by growth of endometrial tissue outside the uterine cavity.[1]

First question you should be asking yourself is: Why would endometrial tissue grow in other areas of the body??

Before the connection is shared between MTHFR and endometriosis, one must understand what is a disease.

We typically think of disease being caused by infection.

Let’s define disease:

  • Disease = a pathological condition of a part, organ, or system of an organism resulting from various causes, such as infection, genetic defect, or environmental stress, and characterized by an identifiable group of signs or symptoms.[2]

If endometriosis is not caused by infection, then it must be caused by either genetic defects and/or environmental stressors.

Endometriosis is caused by both genetic defects and environmental exposures.

Endometriosis and Environmental Stressors
What in the environment would cause uterine cells to grow in other parts of the body?

In one word, that can be answered.


Xeno means, “indicating something foreign, strange or different.” [3]

Estrogen means, “a generic term for estrus-producing compounds; the naturally occurring female sex hormones include estradiol, estrone and estriol.[4]

A xenoestrogen is a foreign substance that stimulates the production of estrogens.

Xenoestrogens In the Environment:

  • Bisphenol A (BPA)
  • Phthalates
  • Polychlorinated biphenyl (PCB)
  • some Pesticides
  • some Herbicides
  • Triclosan
  • Polyvinyl chloride (PVC)
A comprehensive and excellent article on Xenoestrogens by Kerry G is worth reading

Endometriosis and the Genetic Defect Connection
In order to process xenoestrogens, one must have functional detoxification pathways.

There are countless genes whose function is to detoxify substances and eliminate them from the body. A few of these genes are known as MTHFR, COMT, SOD1, SOD2, GSTM1 and various CYT.

If these genes are mutated or deleted, then the elimination of xenoestrogens is limited at best.

The MTHFR gene mutation, especially the C677T form, may cause a deficiency in the production of the body’s largest single carbon donor, SAMe. SAMe is extremely important in detoxification .

MTHFR C677T individuals are limited in their ability to produce glutathione, which is a significant contributor to detoxification.

The ability to eliminate xenoestrogens is compromised when one is deficient in SAMe and glutathione due to a MTHFR C677T defect.

Endometriosis may then become an issue.

Solutions to Prevent and Eliminate Endometriosis:

  1. Avoid xenoestrogens
  2. Eat organic, whole food
  3. Limit exposure to artificial chemicals and utilize green-friendly products as often as possible
  4. Sweat often using sauna, exercise, yoga, epsom salt baths
  5. Support liver detoxification pathways
  6. Supplement with glutathione or take the precursors of glutathione – or both
  7. Test for the MTHFR defect
  8. Support the C677T MTHFR defect with the right lifestyle, diet and supplements
  9. Balance methylation
  10. Identify potential genetic defects which compromise detoxification


12 Responses to “Endometriosis and MTHFR: A Connection”

  1. Lis March 27, 2012 at 6:19 am # Reply

    Great article Dr Ben! So would taking L-Glutamine help? Is this the pre-cursor? I bought the Tony Sfeir’s brand (in Australia) awhile ago as it was labelled gluten free and said it helps with immume system. The packaging says that i can mix it with my protein powder (onto the pea protein now:). Thanks:)

  2. Carol Drury March 29, 2012 at 3:00 pm # Reply

    Thank you for increasing awareness about the environmental aspects of endometriosis and the importance of avoiding xenoestrogens. The Endometriosis Association’s research found the first connection between the chemical dioxin and endometriosis. Readers can find more information about endometriosis at http://www.EndometriosisAssn.org. Also on the website readers can find supplements that many endo women have found helpful, including a glutathione called “Antiox-Detox Support.”

  3. Crystal July 19, 2012 at 5:53 pm # Reply

    I fought Endo. for more than twenty years until I found John Lee and started using Natural Progesterone in Vitamin E oil. I have a single mutation on the MTHF gene. My doctor recommended 1 gram of 5-MTHF daily – as well as a Methylated form of B12 in a B-complex. Is that dose high?

    • Dr Ben July 25, 2012 at 7:30 am # Reply

      Hi Crystal –

      The dose recommended by your doctor is a good amount – and I am happy to see that it is not excessive.

      What I recommend you consider is taking the dose your doctor recommended and splitting it into two doses – upon rising and again right after lunch. Consider taking 1/2 tablet of Active B12 with Metafolin twice daily. This will provide a total of 800 mcg of methylfolate and 1000 mcg of methylcobalamin – near to the amount your doctor recommended for both.

      If your doctor wants you to take more, you may take 1.5 tablets in the AM and .5 tablet in the afternoon.

  4. lynn May 30, 2013 at 9:52 pm # Reply

    Hi Dr. Ben Lynch,
    I have had endometriosis since the onset of my first period, age 12. I had no ‘family history’ and was placed on numerous drugs over the years. I suffered severe pain for every month of my life during that time despite the painkillers. In 1996 I read a book by Dr.Christine Northrup and changed my diet: removing meat and dairy (all inflammatory foods). I have been mostly symptom free since then. I’ve always suspected that there was something metabolic occurring.

    Mthfr c677t +-. I am homozygous with MTRR A66G and MTRR A664a. I am heterozygous for CBS C699T variances.

    I read this article feeling for the first time that my notion was correct. Could you further add what supplements are important to take that can help support these pathways? Much appreciated,Lynn

  5. jane December 19, 2014 at 2:11 pm # Reply

    Would any ofnthis apply to adenomyosis?

  6. Crystal Trigaux January 3, 2015 at 2:58 am # Reply

    Yes, adenomyosis is a type of endometriosis. So, it applies to both

  7. Brendan February 3, 2015 at 5:42 pm # Reply

    Hey there! With MTHFR mutations affecting different hormone levels, what could/should be done for a woman who has sky high estradiol levels and super low testosterone levels. I certainly understand how addressing the methylation cycle in it’s entirety is the long term solution, but if the estrogen levels are so high, and testosterone so low, is there anything that can be used to “get over the hump” per say before those excess estrogens due more damage? Would something like a SERM or AI be helpful to rebalance these hormones? I imagine sticking to a holistic protocol to address the underlying methylation issue is the main thing, but I worry about how long that could take before hormones stabilize to the point of being able to feel halfway decent each day. Any info on a more timely way to balance hormones (particularly sex hormones) that have been altered from poor methylation would be greatly appreciated! And please don’t say I3C or DIM, something more potent perhaps?

  8. Eric Potter MD March 3, 2015 at 9:38 pm # Reply

    Thanks Ben,
    I am caring for a patient with MTHFR and endometriosis. I needed a starting point to do some research and this is great.
    Eric Potter MD

    • Dr Lynch March 4, 2015 at 5:47 am # Reply

      Hi Eric – Glad to help! Please visit http://www.seekinghealth.org with a LOT more information and training. We have an upcoming conference coming up with new information as well in October in Denver. Perhaps see you there!

  9. Eric Potter March 5, 2015 at 2:05 pm # Reply

    You are welcome Ben. I have already completed 3 of your courses and continue to review them intermittently. Great information and great presentations. I wish I could make it to Denver but opening my integrative practice won’t allow me that kind of time. Maybe the next year.


  1. I Am Not Superman, I Have A Gene Mutation — Scratch Treehouse - September 23, 2013

    […] Endometriosis and MTHFR – Guess which marker is linked, yes the one I have: C677T […]

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