McCune-Albright Syndrome

Definition:

McCune-Albright Syndrome (MAS) is a rare genetic disorder that primarily affects the bones, skin, and endocrine system. It is caused by a mutation in the GNAS1 gene, resulting in the overactivity of certain hormones and the abnormal growth of various tissues.

Symptoms:


  • Polyostotic Fibrous Dysplasia (FD):

    This bone disorder leads to the abnormal development and weakening of multiple bones. It often causes fractures, deformities, and bone pain.


  • Café-au-lait Spots:

    Large, irregularly shaped pigmented spots on the skin that are often present at birth.


  • Endocrine Abnormalities:

    Various hormonal imbalances can occur, such as precocious puberty, hyperthyroidism, growth hormone excess, or excessive production of cortisol.


  • Other Manifestations:

    MAS can also involve abnormalities in the adrenal glands, ovaries, testes, and other tissues.

Diagnosis:

Diagnosis of McCune-Albright Syndrome involves a combination of physical examination, medical history analysis, imaging tests (e.g., X-rays, bone scans), hormonal evaluations, and genetic testing. The presence of characteristic symptoms and identification of the GNAS1 gene mutation aid in confirming the diagnosis.

Treatment:

Treatment for McCune-Albright Syndrome focuses on managing and alleviating specific symptoms and complications. It may include medications to regulate hormone levels, surgical interventions to correct bone deformities, physical therapy, and regular monitoring of disease progression.

Prognosis:

The prognosis for individuals with McCune-Albright Syndrome varies depending on the severity of symptoms and associated complications. With appropriate management and multidisciplinary care, many people with MAS can lead fulfilling lives.

Shopping Cart