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 McCune-Albright syndrome  

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What is the etiology there? What is the treatment?


McCune-Albright syndrome is caused by mutations in the GNAS1 gene. It is associated with mosaicism, meaning that the abnormal gene is present in a fraction, but not all, of the patient's cells. This disease is not inherited, it is sporadic. This means that a new mutation of the DNA occurs in the womb during development of the patient. This mutation is not passed on to any children the patient later has.

There is not a specific treatment for McCune-Albright syndrome. Drugs that inhibit estrogen production, such as testolactone, have been tried with some success.

Adrenal abnormalities (such as Cushing's syndrome) may be treated by surgery to remove the adrenal glands. Gigantism and pituitary adenoma will require treatment with hormone inhibitors or surgery.

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