McCune-Albright syndrome is a rare genetic disorder that affects the bones, skin, and endocrine system. It is caused by a mutation in the GNAS gene, which leads to the overactivity of certain hormones and tissues in the body.
Key features of McCune-Albright syndrome may include:
1. Fibrous dysplasia: Abnormal development of bone tissue, leading to weak and brittle bones that are prone to fractures.
2. Café-au-lait spots: Light brown skin patches that are usually evident at birth and can be found on various parts of the body.
3. Endocrine abnormalities: The syndrome may also involve abnormalities in the endocrine glands, such as early puberty (precocious puberty) in girls, hyperactive thyroid gland (hyperthyroidism), and excess production of growth hormone (acromegaly).
The symptoms and severity of McCune-Albright syndrome can vary widely among affected individuals. Treatment for this condition typically focuses on managing the associated symptoms and may include medication to regulate hormone levels, surgical procedures to stabilize bones or treat fractures, and other supportive therapies.
Due to the complexity of the condition and its impact on multiple systems in the body, a team of healthcare providers, including endocrinologists, orthopedic specialists, dermatologists, and others, may be involved in the management and care of individuals with McCune-Albright syndrome.