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What Is Functional Hypothalamic Amenorrhea, and Why Is it Challenging to Diagnose?

Functional Hypothalamic Amenorrhea as a reversible and treatable form of infertility. Learn more about the difficulties diagnosing the condition, as discussed by Dr. Vitaly Kushnir, a physician at Center for Human Reproduction in New York, NY.

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So today we are speaking about Functional Hypothalamic Amenorrhea and this is a very complex condition, perhaps one of the most complicated we see in our field of reproductive endocrinology and fertility medicine.

It’s important to correctly identify patients that have this condition, and it is important to realize that not every patient presents in the same way, there is a big spectrum of how this spectrum presents. And that is why it is so often missed by many people in the general community, by general doctors, and sometimes even by specialists – who can be endocrinologists or infertility specialists – and it’s crucial not to overlook these patients as I will explain later on in this discussion.

So the way that we diagnose Functional Hypothalamic Amenorrhea is first-of-all by excluding other conditions that can present with Amenorrhea, and by Amenorrhea we mean is women who persistently have menstrual cycles that skip 45 days or more. So they are getting either no menstrual cycles at all, that is complete Amenorrhea, or they are getting irregular menstrual cycles that are often having gaps that are long between their menstrual cycle of 45 days or more. So that is the first criterium.

The second criterium is that you have to rule out other conditions that can lead to Amenorrhea, and there are many different conditions, and that is why, often, people don’t come to the correct diagnosis because they often haven’t fully excluded those other conditions that mimic Hypothelamic Amenorrhea.

Now, the third most important component of all this is to recognize the risk factors and the type of behaviours that predispose women to develop Functional Hypothalamic Amenorrhea, and basically these fall into two categories. One of them is eating disorders and not having enough energy intake, sometimes it’s because the woman is not eating enough because either she has bulimia or anorexia; and sometimes it is because she is not correctly metabolizing the food that she is eating, for example patients who have celiac disease, where some of the calories or some the nutrition she is eating is not having the intended effect on her health.

The second component of this is energy expenditure. And what we see is that in Functional Hypothalamic Amenorrhea women tend to spend more energy than what they take in every day. Meaning that, even if they’re eating normally, they are exercising to the point where they are in a net energy deficit. This applies especially to women who are training for various athletic events like running marathons, or women who are practicing gymnastics, and actually the classic example of Functional Hypothalamic Amenorrhea is what’s called the Female Athlete Triad. We often think about this in younger girls or young women who are practicing gymnastics, so these are the main aspects.

Now one other interesting etiology of Functional Hypothalamic Amenorrhea is due to chronic stress and even acute stress, for example someone who has a loss in the family, a close relative that passed away, or some other major stressful event. Sometimes we think about young girls going to college for the first time and this could be a major change in their lifestyle. And this can sometimes trigger an interval of Amenorrhea in these women.

So, again, to summarize the main components I am looking for in my history is the energy balance, and this is a combination of how much energy is being taken in through the diet and how much is being expended mostly through exercise and daily activities. But also, we have to exclude other causes that can mimic of Functional Hypothalamic Amenorrhea before we come to the diagnosis and that is why it is so often overlooked.