McCune Albright Syndrome

McCune-Albright syndrome is a genetic condition that affects your bones, skin and endocrine system, causing café-au-lait skin pigmentation, scar tissue forming on bones (fibrous dysplasia) and irregular function of growth-regulating glands that produce hormones. Treatment alleviates symptoms of the condition and leads to a normal life expectancy, but there isn’t a cure.

Other names of McCune Albright Syndrome

  • Fibrous dysplasia

  • Albright

Causes of McCune Albright Syndrome

  • A mutation of the GNAS1 gene causes McCune-Albright syndrome.

  • The GNAS1 gene makes proteins that regulate hormone activity.

  • The mutation causes an enzyme (adenylate cyclase), which is a type of protein, to overproduce hormones and cause symptoms of McCune-Albright syndrome.

  • The genetic mutation is the result of a change in DNA that happens after conception (somatic mutation) and isn’t a condition that’s passed from parents to the child.

  • The genetic mutation is not the result of something that the parents did or did not do during pregnancy.

  • There have been no proven cases of people with McCune-Albright syndrome having a child with the same condition.

  • The cause of somatic mutations is unknown and research suggests they occur randomly or sporadically.

Symptoms of McCune Albright Syndrome

Bone symptoms

  • Asymmetrical bone growth of the face.

  • Bone pain and discomfort.

  • Loss of mobility.

  • Rickets or osteomalacia.

  • Scoliosis.

  • Short stature.

  • Uneven bone growth of the legs (causing a limp).

Skin symptoms

  • Babies born with McCune-Albright syndrome may have patches of skin that are a different color than the rest of the skin on their body (skin pigmentation).

  • These patches normally take on a light brown to dark brown color and appear with uneven, jagged borders.

  • These spots may only show up on one side of their body.

  • Café-au-lait spots may become more prevalent on their skin as your child becomes older.

Endocrine system symptoms

  • The pituitary gland produces too many growth hormones, resulting in large hands and feet, rounded facial features and/or arthritis called acromegaly.

  • The adrenal glands produce too much cortisol (stress hormone), which causes obesity and delayed growth called Cushing’s syndrome.

Diagnosis of McCune Albright Syndrome

Tests that diagnose McCune-Albright syndrome include:

  • Blood tests to check endocrine function.

  • Genetic testing to identify the gene mutation responsible for symptoms, which usually involves taking a biopsy of their skin or other tissues.

  • Imaging tests like an X-ray to examine bone growth.

Treatment of McCune Albright Syndrome

  • Medicine to treat bone growth symptoms like bisphosphonates, which reduce the risk of bone fractures.

  • Medicine to treat early puberty like aromatase inhibitors.

  • Medicine to treat hyperthyroidism like antithyroids.

  • Physical therapy and occupational therapy to target mobility challenges.

  • Surgery to treat bone growth symptoms like fibrous dysplasia.

diseases treatments syndromes disorders mccune-albright-syndrome health fibrous-dysplasia

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