Morgani–Turner–Albright syndrome

Morgani–Turner–Albright Syndrome (MTAS) is a rare genetic disorder that affects various systems of the body, including the endocrine system, skeletal system, and skin. It is characterized by a combination of symptoms, including precocious puberty, polyostotic fibrous dysplasia, and café-au-lait spots. The syndrome is named after the physicians who first described it: Giovanni Morgagni, Henry Turner, and Fuller Albright.

Symptoms and Signs

The clinical manifestations of Morgani–Turner–Albright Syndrome can vary significantly among individuals but commonly include:

• Precocious Puberty: Early onset of puberty, often observed before the age of 8 in girls and 9 in boys.
• Polyostotic Fibrous Dysplasia: A condition where normal bone is replaced with fibrous bone tissue, leading to deformity, pain, and increased risk of fractures.
• Café-au-Lait Spots: Light brown skin patches, which are often present at birth or develop early in life.

Other potential symptoms may involve endocrine abnormalities such as hyperthyroidism, acromegaly, and Cushing's syndrome, though these are less common.

Causes

Morgani–Turner–Albright Syndrome is caused by mutations in the GNAS gene, which encodes a protein involved in the regulation of several hormones in the body. These mutations are not inherited but occur spontaneously at some point during the development of the embryo.

Diagnosis

Diagnosis of MTAS involves a combination of clinical evaluation and diagnostic tests. These may include:

• Physical examination to identify characteristic symptoms.
• Imaging tests, such as X-rays or MRI, to detect fibrous dysplasia.
• Endocrine tests to assess hormone levels.
• Genetic testing to identify mutations in the GNAS gene.

Treatment

There is no cure for Morgani–Turner–Albright Syndrome, and treatment focuses on managing symptoms and preventing complications. Treatment strategies may include:

• Hormone therapy to manage precocious puberty or other endocrine disorders.
• Pain management and physical therapy for fibrous dysplasia.
• Surgical interventions to correct bone deformities or fractures.

Prognosis

The prognosis for individuals with Morgani–Turner–Albright Syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate care, many individuals can lead relatively normal lives.

See Also

• Endocrine System
• Genetic Disorders
• Bone Dysplasia