McCune-Albright Syndrome

A genetic disorder by: Josiah Gibboni

A severe genetic disorder about bones, skin pigmentation, and hormonal problems

Severity

McCune-Albright syndrome has different levels of severity. For example one child may be entirely healthy with no outward evidence of bone or endocrine problems, enter puberty at close to the normal age and have no unusual skin pigmentation. The complete opposite of that would be children who are diagnosed in early infancy with the obvious bone disease and obvious increased endocrine secretions from several glands.

Causes

It's usually called a mosaicism, which is a mutation of the GNAS1 gene. Involved in G-protein signalling. It is not inherited.

Testing

Abnormal bone growth in the skull, abnormal heart rhythms, and gigantism are some physical examinations someone can see. Other tests include an MRI of the head, Xrays of the bones, or genetic testing for the GSA1 gene.

Life Expectancy

Most people that have the disease live a normal life. It can range from about 60-90 years old.

Symptoms

In most occasions, puberty as early as 4-6 months in girls and in some rarer cases boys. Gigantism, which makes a child grow much larger then they normally would. Irregular large patchy skin spots, especially on the back. Deformities of the bones in the face, and bone fractures are also symptoms.

Treatments

There is no specific treatment for McCune's. You can take drugs that block estrogen production. Some cases require surgery to remove adrenal glands. Gigantism can be treated with hormone inhibiters and surgery.

Impact

It can cause bone soreness, bones also break easier because they are weaker. Blindness and deafness can occur in some cases. Chronic pain in most areas of the body is a regular occurance.

Support

The FD foundation raises awareness for McCoon's. There are blogs all over the internet with people that have the syndrome and write about their daily life.