FirePatriot
New Member
First off, I have to give a massive thank you to the people of MESO. If I hadn't started researching hormones and steroids years ago on this forum, I never would have understood how hormones work in the first place. Because of that foundation, I was able to uncover my wife’s real condition—something I honestly don’t think her doctors would have ever figured out. She would likely still be sick today if I hadn't stepped in.
I’ve tried to keep the terminology relatively simple here, but I can post a more robust medical write-up if anyone is interested.
My wife has a genetic condition called 1q21.1 Microdeletion. We’ve always known this was the reason for her short stature (4'9"), but recently she was hit hard by extreme fatigue, weight gain, and symptoms mimicking perimenopause. We know she carries this condition because it is passed through the X chromosome (our daughter has it as well).
In 2016, her doctors ran a basic panel during a checkup. At the time, she was in decent shape and mostly asymptomatic, but they saw a high TSH level and immediately slapped her with a "Hypothyroidism" label. They put her on Levothyroxine without looking any deeper. They didn’t even bother to check for Thyroid Antibodies (TPO/TgAb)—which we didn't realize until years later.
The Complication The medication was a disaster. It didn't lower her TSH at all, and physically, it made her miserable. Her hair even started falling out. She felt significantly worse on the meds than off them. That’s when my background knowledge from my own health research kicked in. I knew that if you add thyroid medication like Levothyroxine or Armour and the TSH doesn't budge, something else is going on.
My Hypothesis I looked closely at her genetic profile (1q21.1) and realized the doctors were looking at the wrong organ. A primary issue with 1q21.1 is that the pituitary gland is often dysfunctional—which is exactly why she is short to begin with.
I suspected the microdeletion was causing a failure in signaling for testosterone production. Doctors rarely check testosterone in women, even though they check estrogen constantly. Thankfully, we have a good PCP who was willing to humor me and order the labs I requested. We checked every marker possible, including TPO/TgAb antibodies.
Surprise, surprise: the antibodies were negative. She never had Hashimoto’s. However, her testosterone levels were bottomed out. The doctor actually checked her once a week for three weeks to rule out the natural dips that occur during the follicular phase, but the results were consistent.
The Conclusion Without testosterone to balance the system, her estrogen went unchecked. High estrogen forces the liver to produce excess Thyroid-Binding Globulin (TBG).
Essentially, high estrogen was driving up TBG levels. Her thyroid was actually working fine, but the excess TBG was binding up all the usable hormones in her blood. The high TSH wasn't a sign of a broken thyroid; it was a "false alarm" caused by those binding proteins tying everything up.
The Solution We stopped the Levothyroxine that was making her sick and addressed the actual cause: the low testosterone stemming from her genetic condition. We started her on Hormone Replacement Therapy (HRT) to restore balance. Since she was producing E2 and other hormones fine, she only needed testosterone to level the scales.
The Result It worked perfectly. Once her testosterone levels rose, the binding proteins dropped. Her TSH returned to the normal range on its own, and the fatigue, brain fog, joint pain, and "perimenopause" symptoms vanished.
It’s been almost a year, and she is doing great. Our PCP was shocked they missed the antibody check, but the reality is they were treating a number on a page instead of the patient. It took looking at the whole picture to get her healthy.
I’m 34 now, and this experience is why I’m going back to school for a degree in Biochemistry. I think I’ve finally found what I want to do with my life besides just coding for 10 hours a day.
If anyone wants to see the more technical medical study I’m putting together for school based on this, let me know!
I’ve tried to keep the terminology relatively simple here, but I can post a more robust medical write-up if anyone is interested.
My wife has a genetic condition called 1q21.1 Microdeletion. We’ve always known this was the reason for her short stature (4'9"), but recently she was hit hard by extreme fatigue, weight gain, and symptoms mimicking perimenopause. We know she carries this condition because it is passed through the X chromosome (our daughter has it as well).
In 2016, her doctors ran a basic panel during a checkup. At the time, she was in decent shape and mostly asymptomatic, but they saw a high TSH level and immediately slapped her with a "Hypothyroidism" label. They put her on Levothyroxine without looking any deeper. They didn’t even bother to check for Thyroid Antibodies (TPO/TgAb)—which we didn't realize until years later.
The Complication The medication was a disaster. It didn't lower her TSH at all, and physically, it made her miserable. Her hair even started falling out. She felt significantly worse on the meds than off them. That’s when my background knowledge from my own health research kicked in. I knew that if you add thyroid medication like Levothyroxine or Armour and the TSH doesn't budge, something else is going on.
My Hypothesis I looked closely at her genetic profile (1q21.1) and realized the doctors were looking at the wrong organ. A primary issue with 1q21.1 is that the pituitary gland is often dysfunctional—which is exactly why she is short to begin with.
I suspected the microdeletion was causing a failure in signaling for testosterone production. Doctors rarely check testosterone in women, even though they check estrogen constantly. Thankfully, we have a good PCP who was willing to humor me and order the labs I requested. We checked every marker possible, including TPO/TgAb antibodies.
Surprise, surprise: the antibodies were negative. She never had Hashimoto’s. However, her testosterone levels were bottomed out. The doctor actually checked her once a week for three weeks to rule out the natural dips that occur during the follicular phase, but the results were consistent.
The Conclusion Without testosterone to balance the system, her estrogen went unchecked. High estrogen forces the liver to produce excess Thyroid-Binding Globulin (TBG).
Essentially, high estrogen was driving up TBG levels. Her thyroid was actually working fine, but the excess TBG was binding up all the usable hormones in her blood. The high TSH wasn't a sign of a broken thyroid; it was a "false alarm" caused by those binding proteins tying everything up.
The Solution We stopped the Levothyroxine that was making her sick and addressed the actual cause: the low testosterone stemming from her genetic condition. We started her on Hormone Replacement Therapy (HRT) to restore balance. Since she was producing E2 and other hormones fine, she only needed testosterone to level the scales.
The Result It worked perfectly. Once her testosterone levels rose, the binding proteins dropped. Her TSH returned to the normal range on its own, and the fatigue, brain fog, joint pain, and "perimenopause" symptoms vanished.
It’s been almost a year, and she is doing great. Our PCP was shocked they missed the antibody check, but the reality is they were treating a number on a page instead of the patient. It took looking at the whole picture to get her healthy.
I’m 34 now, and this experience is why I’m going back to school for a degree in Biochemistry. I think I’ve finally found what I want to do with my life besides just coding for 10 hours a day.
If anyone wants to see the more technical medical study I’m putting together for school based on this, let me know!
