McCune-Albright syndrome

• Main Authors: Juraj Payer, Jana Kollerová
• Format: Article
• Language: English
• Published: Termedia Publishing House 2011-04-01
• Series: Rheumatology
• Subjects: McCune-Albright syndrome; GNAS1 gene mutation; endocrine hyperfunctions
• Online Access: http://www.termedia.pl/Artykul-redakcyjny-Zespol-McCune-a-Albrighta,18,16651,1,0.html

McCune-Albright syndrome belongs to rare genetic diseases.Albright initially described the syndrome in 1937 as the triad andMcCune extended it to include manifestations of hyperthyroidism.Other signs were attributed to the clinical picture later on andmore signs continue to be revealed at present.The syndrome is a result of sporadic early-onset postzygoticsomatic mutation of the GNAS1 gene and is characterized by thetriad of bone dysplasia, skin hyperpigmentation and variousendocrine hyperfunctions. The extent and degree of involvementof affected tissues are heterogeneous due to mosaicism for thegenetic mutation and thus every patient has a particular phenotype.The disease is the subject of extensive research and newpathogenetic mechanisms are being elucidated leading to newdiagnostic and therapeutic choices. Patients with McCune--Albright syndrome ultimately grow-up but burden of the diseaseunfortunately continues to reduce their quality of life. For dominatingbone and endocrine involvement they are managed primarilyby endocrinologists, however rheumatologists are increasinglyinterested in recognising the McCune-Albright syndrome. Skeletaldeformities, fractures and hyperestrogenism as well as growth hormonehyperproduction are some of the most frequent challenges inmanagement.