Detailed Information on McCune Albright syndrome

McCune-Albright syndrome is a inherited disease affecting the bones and pigmentation (color) of the skin. It also causes hormonal problems and early sexual development. McCune-Albright syndrome is reason by mutations in the GNAS1 gene. It is related with mosaicism, meaning that the abnormal gene is present in a part, but not all, of the patient's cells. McCune-Albright syndrome (MAS) is defined as the association of polyostotic fibrous dysplasia (PFD), precocious puberty, café au lait spots, and other endocrinopathies due to hyperactivity of various endocrine glands.

Children with McCune-Albright syndrome have abnormal fibrous dysplasia in the bone that can guide to fractures, deformities, and abnormal X-rays. Abnormal bone growth in the skull can lead to blindness or deafness due to "pinched" nerves. McCune-Albright syndrome occurs equally in all races. McCune-Albright syndrome is common in affected girls than in boys. Other manifestations of McCune-Albright syndrome probably occur equally in both sexes.

McCune-Albright syndrome can reason patches of augmented or darker skin coloring.  People with McCune-Albright syndrome may have symptoms associated to bones, the endocrine system, or skin. People with McCune-Albright syndrome often have polyostotic fibrous dysplasia condition in the bones of the skull and upper jaw, so these bones grow unevenly. Cushing’s syndrome is a rare problem for McCune-Albright syndrome patients.  Symptoms include obesity of the face and body, weight gain, skin fragility, and stopping growth in childhood. Cushing’s syndrome is treated by removing the affected glands or with medicine.

Girls with McCune-Albright syndrome start to appear signs of puberty much younger than normal. Menstrual bleeding before two years of age is the primary symptom of McCune-Albright syndrome for most female patients. Boys with the condition may show signs of puberty early, but these signs are less common than in girls. There is no cure for McCune-Albright syndrome. Medicines treatments (testolactone) may assist diminish or improve some of the symptoms. Adrenal abnormalities may be treated by surgery to remove the adrenal glands. Gigantism and pituitary adenoma will need treatment with hormone inhibitors or surgery.