What are the symptoms of MAS?

MAS symptoms can vary from mild to severe. They may begin at birth or later in childhood.¹

Main Symptoms

Many people with MAS have the following symptoms:

• Café-au-lait spots
  Café-au-lait (French for "coffee with milk") spots, which are light-brown birthmarks. The birthmarks^2,3:
  • Are sually are present at birth
  • May be hard to see on dark skin
  • Often appear on one side of the body
  • Have jagged edges sometimes referred to as the "coast of Maine"
• Polyostotic fibrous dysplasia^2,3
  A person with polyostotic fibrous dysplasia (PFD) has scar-like tissue, or fibrous tissue, in his or her bones. PFD usually occurs on one side of the body in weight-bearing bones, such as leg bones. PFD may cause:
  • Bone pain
  • Cancer of the bone (very rare)
  • Abnormal bone growth
  • Fractures
  • Limping
  • Scoliosis (pronounced skoh-lee-OH-sis), a curvature of the spine
  • Uneven growth, including uneven growth of the face

In addition, bone lesions in the skull may pinch nerves that affect a person’s ability to see and hear.³

• Precocious puberty^2,3,4
  Precocious puberty is when sexual and physical changes occur earlier than normal.
  
  Girls with MAS may experience such symptoms as:
  • Early menstrual bleeding, usually before 2 years of age
  • Early breast growth
  • Beginning to grow faster
  Boys with MAS are less likely to experience early puberty. Symptoms in boys include:
  • Faster than normal growth of penis or testicles
  • Premature sexual behavior
  • Early growth of armpit or pubic hair

Additional Symptoms

Additional features of MAS may include (but are not limited to)^1,2,3,6:

• Overproduction of growth hormone from the pituitary gland
• Cushing syndrome, overactivity of the adrenal glands, leading to an increase in stress hormone levels
• Formation of benign (noncancerous) tumors in the testicles, called Sertoli cell hyperplasia and Leydig cell hyperplasia
• Hyperthyroidism (pronounced hahy-per-THAHY-roi-diz-uhm), an overactive thyroid gland
• Loss of phosphate in the urine, leading to low blood phosphorus levels
• Liver disease

1. De Sanctis, C., Lala, R., Matarazzo, P., Balsamo, A., Bergamaschi, R., Cisternino, M., et al. (1999). McCune-Albright syndrome: A longitudinal clinical study of 32 patients. Journal of Pediatric Endocrinology and Metabolism, 12, 817-826. [top]
2. Genetics Home Reference. (2012). McCune-Albright syndrome. Retrieved May 24, 2012, from http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome [top]
3. Dumitrescu, C. E., & Collins, M. T. (2008). McCune-Albright syndrome Orphanet Journal of Rare Diseases, 3, 12. Retrieved June 21, 2012, from http://www.ojrd.com/content/3/1/12 [top]
4. National Library of Medicine. Precocious puberty. (2011). Retrieved June 21, 2012, from http://www.nlm.nih.gov/medlineplus/ency/article/001168.htm [top]
5. MedlinePlus. Precocious puberty. (2011). Retrieved June 21, 2012, from http://www.nlm.nih.gov/medlineplus/ency/article/001168.htm [top]
6. National Library of Medicine. (2010). McCune-Albright syndrome. Retrieved May 10, 2012, from http://www.nlm.nih.gov/medlineplus/ency/article/001217.htm [top]