Toggle: English / Spanish
McCune-Albright syndrome is a genetic disease that affects the bones and color (pigmentation) of the skin.
Polyostotic fibrous dysplasia
McCune-Albright syndrome is caused by mutations in the GNAS1 gene. A small number, but not all, of the patient's cells contain this faulty gene (mosaicism).
This disease is not inherited.
The hallmark symptom of McCune-Albright syndrome is early puberty in girls. Menstrual periods may begin in early childhood, long before the breasts or pubic hair develop (which normally occur first). Puberty and menstrual bleeding may begin as early as 4 - 6 months in girls.
Early sexual development may also occur in boys, but not as often as in girls.
Other symptoms include:
Exams and Tests
A physical examination may show signs of:
Tests may show too much:
Other tests that may be done include:
Genetic testing is available for the GNAS1 gene.
There is no specific treatment for McCune-Albright syndrome. Drugs that block estrogen production, such as testolactone, have been tried with some success.
Adrenal abnormalities (such as Cushing syndrome) may be treated with surgery to remove the adrenal glands. Gigantism and pituitary adenoma will need to be treated with medicines that block hormone production, or with surgery.
Bone abnormalities (fibrous dysplasia) are sometimes removed with surgery.
Limit the number of x-rays taken of affected areas of the body.
Lifespan is relatively normal.
When to Contact a Medical Professional
Call your health care provider if your child starts puberty early, or has other symptoms of McCune-Albright syndrome. Genetic counseling, and possibly genetic testing, may be recommended if the disease is diagnosed.
Garibaldi L, Chemaitilly W. Disorders of pubertal development. In: Kliegman RM, Stanton BF, St. Geme J, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 556.
- Last reviewed on 9/11/2014
- Chad Haldeman-Englert MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2013 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.