McCune-Albright syndrome

McCune-Albright syndrome (pronunciation: mə-ˈkyün ˈal-ˌbrīt) is a complex genetic disorder affecting the bone, skin, and several endocrine tissues. It is named after its identifiers, Dr. Donovan James McCune and Dr. Fuller Albright.

Etymology

The syndrome is named after Dr. Donovan James McCune and Dr. Fuller Albright, who first described the condition in 1937.

Definition

McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia, skin pigmentation (café-au-lait spots), and endocrine hyperfunction. The disease is caused by mutations in the GNAS1 gene, which leads to increased activity of the protein G protein that it produces.

Symptoms

The symptoms of McCune-Albright syndrome can vary greatly from person to person. They may include:

• Bone deformities and fractures
• Skin pigmentation, often described as café-au-lait spots
• Early puberty
• Overactive endocrine glands

Diagnosis

Diagnosis of McCune-Albright syndrome is based on clinical features, including the characteristic skin pigmentation and bone abnormalities. Genetic testing can confirm the diagnosis.

Treatment

Treatment for McCune-Albright syndrome is symptomatic and supportive. It may include surgery to correct bone abnormalities, medication to manage endocrine problems, and regular monitoring of the condition.

Related Terms

• Polyostotic fibrous dysplasia
• Café-au-lait spots
• Endocrine system
• GNAS1 gene
• G protein

External links

• Medical encyclopedia article on McCune-Albright syndrome
• Wikipedia's article - McCune-Albright syndrome

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