Hemochromatosis and hypogonadism


Too much iron in the blood can lead to testicular failure or pituitary dysfunction, which affect testosterone production. Pituitary and testicular involvement is the cause of loss of menstruation in women or loss of libido and impotence in men. Hypothyroidism may be observed, in addition to affecting various organs.

-Causes of the disease

Hereditary hemochromatosis is the most common genetic disease in the West, affecting 1 in 200 people. All studies have shown its higher prevalence in Caucasian and Celtic individuals. The inheritance of the disease is autosomal recessive, i.e. both parents must be carriers of the altered gene.
Hemochromatosis can be a genetic disorder transmitted from parents to children , therefore in severe cases a genetic study must be made to detect a polymorphism in any of the genes of chromosome 6.
People with this disorder absorb too much iron through their digestive tract. Iron builds up in the body. The liver, heart, and pancreas are common organs where iron builds up.
A person is more likely to get this disease if someone in the family has or has had the disease.
Other blood disorders, such as thalassemia or certain anemias .
Too many blood transfusions over time can lead to iron overload.
metabolic syndrome
Porphyria cutanea tarda
Transferrin congenital deficit
Long-term alcohol consumption.


Symptoms may include any of the following:
Abdominal pain
Fatigue, lack of energy, weakness
generalized darkening of the skin (often called tanning)
Joint pain
Loss of body hair
Loss of sexual desire
Weight loss

A physical exam will be done. This may show liver changes and spleen swelling, and skin color.
Blood tests may help make the diagnosis. Tests may include
ferritin level
iron level
Percentage of transferrin saturation (high)
Genetic testing

Other tests may include:

Echocardiogram to examine heart function

Imaging tests such as CT scan, MRI, and ultrasound
Liver function tests
The condition can be confirmed with a liver biopsy.
If a genetic defect is confirmed, other blood tests can be used to find out if other family members are at risk for iron overload.


The goal of treatment is to remove excess iron from the body and treat any damage to the organs.
A procedure called phlebotomy is the best method for removing excess iron from the body: A half liter of blood is removed from the body each week until the body’s iron level is normal. This can take many months to do.
After that, the procedure can be done less often to maintain a normal iron level.
In men, hormone testosterone therapy may help improve the loss of sexual desire and changes in secondary sexual characteristics.
Other health problems such as diabetes, arthritis, liver failure, and heart failure should be treated concomitantly.
If hemochromatosis is diagnosed, you should follow a special diet to reduce the amount of iron that is absorbed through your digestive tract. Your healthcare provider will recommend the following:
Do not take iron pills or vitamins that contain iron.
Do not use iron cookware.
Do not eat raw shellfish or liver of any origin.
Do not eat iron-fortified foods, such as 100% iron-fortified breakfast cereals.
Without treatment, iron overload can lead to liver damage.
Additional iron can also build up in other areas of the body, including the thyroid gland, testicles, pancreas, pituitary gland, heart, or joints. Early treatment can help prevent complications such as liver disease, heart disease, arthritis, or diabetes.
How well a patient does depends on the amount of organ damage. Some organ damage can be neutralized when hemochromatosis is detected early and treated aggressively with phlebotomy.


Complications include:
Cirrhosis of the liver
Liver failure
Liver cancer
Tanned diabetes (from the toasted color of the skin)
Increased risk of certain bacterial infections
Testicular atrophy
changes in skin color

If symptoms of hemochromatosis develop, it is advisable to do a genetic study of close relatives.

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