Could Hypothalamic Amenorrhea Be Genetic?

22 Oct

Yesterday, David asked me if all runners deal with Hypothalamic Amenorrhea. I wasn’t sure what to respond back with as I know some do have cycle issues during track season for example, but why do some have to deal with HA and some continue on running at a low weight and it never affects their body? Is it something in their genes that predispose them to this? Is it my type-A personality?

When my Dr. first diagnosed me with hypothalamic amenorrhea her exact words were “I hate diagnosing this because it’s so hard to pinpoint what the cause is. It’s so vague.”

Looking back, I have come to realize that it’s a mix of all of those things.

The pattern seems to go like this (below is based on my personality and my experience but also what I have seen in others struggling with HA):

A woman, who has always strived for perfection, likes control and a plan set in place, is truthful, impatient, and takes on more than they can handle, are proactive, and obsessed with time management; basically the definition of someone with a Type-A personality.

That type of woman then decides to take control of her health.

With all of those personality traits and a strong willpower towards striving for perfection mixed with the obsession to control and plan, getting healthy and in shape is then taken to the extreme. This is why my running 2-4 miles a few times a week quickly went to 6-8 miles daily.

They get more and more involved in controlling their health and striving for more, they start researching ways to be even healthier, reading about weight-loss and training for marathons. Not just listening to one piece of advice and filtering out the rest, they take ALL of the advice, tips, and recommendations and focus on implementing every single one.

These are just some of the ingredients that start the HA cooking.

The pattern is definitely there that it is one’s personality that sets them up for the perfect recipe for HA but not every marathoner that has a Type-A personality is infertile so I wondered if it was also a genetic matter. I found a study that was done to help answer this exact question.

The study looked at the connection of mutations in four genes that may predispose women to hypothalamic amenorrhea. It took a group of 55 women with hypothalamic amenorrhea (average of 22.4 years old, with an average BMI of 19.4 –just under what my BMI was when I was diagnosed with HA). It also had a control group made up of 422 women with normal cycles for 2 years.

“We speculate that such heterozygous mutations…” researchers wrote, “…could set a lower threshold for functional inhibition of the hypothalamic-pituitary-gonadal axis under adverse hormonal, nutritional, or psychological conditions and thereby lead to hypothalamic amenorrhea” (Caronia LM, N. Engl).

Basically it means that some are destined to have a more sensitive hypothalamus than others and when those who are more sensitive put their bodies into a state of stress, it affects the hypothalamus function resulting in hypothalamic amenorrhea.

“Since patients with mutations resumed regular menses after discontinuing hormone-replacement therapy, the genetic component of hypothalamic amenorrhea predisposes one to, but is not sufficient to cause, GnRH deficiency.” (Caronia LM, N. Engl).

That could be why some can run and be super fertile while others cannot. It all depends on how sensitive their bodies are and how much ‘stress’ they can handle.

So when I’m wondering ‘why me’ and I start blaming myself, I have to remember that my body is just more sensitive and I just had to counter-act that sensitivity to get it working again and now I just have to continue to let it trust me and continue on with my recovery knowing that my body definitely has a set-point.


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