What is McCune-Albright Syndrome?

McCune-Albright Syndrome is a disease with a genetic base. This health condition can impact the coloring of the skin, as well as have a negative impact on the proper development bone tissue. In extreme cases, McCune-Albright Syndrome can trigger the onset of gigantism, a condition in which the skeletal structure grows beyond what is considered a normal range.

While the disease tends to be associated with females and is often cited as the reason for the occurrence of premature menstruation in young girls, McCune-Albright Syndrome can also occur in males. In both instances, young people of both genders may experience the early appearance of body hair, particularly in the underarm and pubic areas. Girls may begin to develop breasts before reaching the age of ten. Both boys and girls will be more susceptible to broken bones.

There are several symptoms associated with the presence of McCune-Albright Syndrome. The most common is the appearance of blotches on the skin. These blotches are usually irregular in shape and tend to appear in patches on the back, although they may in other areas. Known as café-au-lait spots, the blotches may cause slight discomfort, although they rarely become painful.

Other common symptoms of McCune-Albright Syndrome include the development of scar tissue on the skeletal structure. The buildup of extra tissue on the bones can press against nerve endings and cause a great deal of pain. The pressure on the nervous system can affect eyesight. If not treated, blindness can result. In like manner, abnormal bone growth may create issues with hearing, up to and including complete deafness.

At present, there is no known cure for McCune-Albright Syndrome. Treatments are usually directed at managing the conditions created by the disease. For example, the use of drugs that are intended to correct an imbalance of estrogen in the body, such as testolactone, often prove to be effective in holding off premature development.

McCune-Albright Syndrome is not a communicable disease. There does not appear to be any proof that the disease is inherited from previous generations in the family line. Most medical professionals agree that the development of the disease is a sporadic event that takes place in the womb when a mutation of the GNAS1 gene takes place. The mutation will be present in a number of the body’s cells, and trigger various symptoms of the disease.

Not all persons who have McCune-Albright Syndrome will experience a complete range of symptoms. Even within the context of the symptoms that do manifest, the severity may fall anywhere between mild to pronounced. Physicians are often able to work with the patient and identify ways to manage the condition so that the sufferer has an excellent chance for living a normal and healthy life.