Case Report: Disease Causing Low Testosterone: Look and You Shall Find
He came to my office out of sorts, looking for answers to his medical issues. As a 30-year-old, he had been experiencing fatigue, depression, low sex drive and erectile dysfunction for 8 years! Knowing that the average young male thinks about sex every 10 minutes during waking hours and ever so rarely fails to have an erection, I was very concerned for him and took his symptoms very seriously. He had seen his primary care provider, an endocrinologist and a neurologist before me. He was given antidepressants, psychotherapy and other treatments to no avail. This led to a diagnosis of low testosterone and subsequent treatment with testosterone injections. Like a recharged Energizer® bunny, testosterone replacement revived him entirely, making him feel “absolutely better in every way.” All good. Yet, he sat in front of me wondering whether or not he would have to take testosterone for the rest of his life, maybe 60+ years! He was more worried about how he would stay fertile when he learned that testosterone therapy acts as a contraceptive.
The Bottom of Things
I am a “root-cause” guy. By figuring out why things happen, you have the best chance for cure. The simple question here is: What was causing the testosterone drain on this young man, and could it be reversed? So, I went to work.
His medical history was a blank slate for risk, including no pot or other drug use, no untimely stress, and no sleep apnea or obesity. His physical examination was also unremarkable with normal testicle size and no varicoceles. The finding of normal sized testicles told me that whatever happened to his testosterone occurred after puberty and was not a lifelong problem of testicular failure. His blood work showed no diabetes, anemia, prolactin or thyroid issues, all of which can be associated with low testosterone.
But then I saw it, deep within his bundle of laboratory studies: his blood counts were high. He was polycythemic. But why? Well, just being on testosterone could do this, but he wasn’t taking high enough, anabolic doses of testosterone. Then, I came upon blood tests taken before he started testosterone and, lo and behold, he was polycythemic then too. Bingo! The diagnosis: hemochromatosis.
A Bloody Disease
Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from food. It occurs in 1 of every 200-300 people and is found far more often in men than women. Because of this gene defect, excess iron is absorbed and then gets stored in body organs like the liver, pancreas and spleen. Over time, the stored iron causes scarring and organ damage that may lead to liver disease, diabetes and heart failure. Infertility, erectile dysfunction and low testosterone are also consequences of hemochromatosis. And, left untreated, it can be fatal.
You’ll never guess how it’s treated: Bloodletting (now known as therapeutic phlebotomy). Bloodletting, or draining of a patient’s blood to prevent or cure disease, was the most common medical procedure performed by surgeons from antiquity until the late 19th century, a span of over 2,000 years. And it still has application today. Does it cure hemochromatosis? No, but it prevents damage to organs by keeping iron from accumulating in them and results in an essentially normal lifespan.
So, this root cause analysis paid off handsomely. I asked this young man to consider donating blood regularly. I also took him off of the testosterone injections and started him on clomiphene citrate pills to push his “lazy” pituitary harder to make more of his own testosterone levels. In this way, we maintained his normal (high) quality of life that he enjoyed while on testosterone without using testosterone; he now also enjoys good sexual health and is fertile, and we added a few more years to his life. We have done what Hippocrates, the Father of Medicine, ordered us to do: “Declare the past, diagnose the present, foretell the future.” And that, my friends, is the hat trick of great medicine!