From the Guidelines
Testosterone levels can be low in hereditary hemochromatosis (HH) due to iron overload causing damage to the pituitary gland and testes, leading to hypogonadism. Hemochromatosis is a genetic disorder that causes excessive iron absorption and accumulation in various organs, including the endocrine tissues responsible for testosterone production 1. This iron overload can disrupt the normal signaling of the hypothalamic-pituitary-gonadal axis, resulting in reduced testosterone production. Men with hemochromatosis may experience symptoms of low testosterone, including:
- Decreased libido
- Erectile dysfunction
- Fatigue
- Reduced muscle mass
- Infertility
According to the EASL clinical practice guidelines on haemochromatosis, published in the Journal of Hepatology in 2022 1, hypogonadotrophic hypogonadism is a common manifestation of severe or early onset haemochromatosis. Treatment involves phlebotomy to reduce iron levels, which may help restore hormone function if initiated before permanent damage occurs. For patients with established hypogonadism, testosterone replacement therapy may be necessary, typically administered as injections, transdermal gels, or patches. Regular monitoring of testosterone levels, hematocrit, and PSA is important during replacement therapy. Early diagnosis and treatment of hemochromatosis are crucial to prevent irreversible hormonal complications, highlighting the importance of prompt medical attention for individuals with this condition.
From the Research
Testosterone Levels in Hereditary Hemochromatosis (HH)
- Testosterone levels have been found to be low in some patients with hereditary hemochromatosis (HH) 2, 3, 4, 5.
- A study published in 2001 reported a case of a 36-year-old patient with primary haemochromatosis who presented with erectile dysfunction and had reduced levels of luteinizing hormone, follicle-stimulating hormone, and testosterone 2.
- Another study published in 1983 found that six out of ten male subjects with hemochromatosis had subnormal testosterone levels, and eight subjects had sexual dysfunction (impotence and/or decreased libido) 3.
- A study published in 2005 reported that abnormally low plasma testosterone levels were found in nine out of 141 (6.4%) male patients with HH, and eight of these nine patients had associated hepatic cirrhosis 4.
- A study published in 1984 found that five men with hemochromatosis had below normal testosterone concentrations, and four of these men also had low gonadotrophin levels 5.
Reversal of Hypogonadism with Iron Depletion
- Some studies have reported that iron depletion therapy can restore normal sexual function and sex hormone concentrations in men with hereditary hemochromatosis and hypogonadism 2, 5.
- A study published in 2001 reported that a patient with primary haemochromatosis who had hypogonadotropic hypogonadism due to iron overload was able to regain erectile function and potency after venesection therapy 2.
- A study published in 1984 found that two men with hypogonadism due to hemochromatosis had their testosterone levels return to normal after phlebotomy, and their sexual function was also restored 5.
Pathogenesis of Hypogonadism in HH
- The pathogenesis of hypogonadism in HH is thought to be due to the selective deposition of iron on the gonadotropin-producing cells of the pituitary gland, leading to impaired hormonal secretion 6.
- Hypogonadism in HH can be either primary (due to testicular damage) or secondary (due to pituitary dysfunction) 3, 5.