McCune Albright syndrome

Common Name(s)

McCune Albright syndrome, McCune-Albright Syndrome

McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "McCune Albright syndrome" for support, advocacy or research.

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

Last Updated: 12 Dec 2012

View Details
The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 18 Jun 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "McCune Albright syndrome" for support, advocacy or research.

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

http://www.fibrousdysplasia.org/

Last Updated: 12 Dec 2012

View Details
The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 18 Jun 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "McCune Albright syndrome" returned 57 free, full-text research articles on human participants. First 3 results:

Neonatal McCune-Albright syndrome with systemic involvement: a case report.
 

Author(s): Rita Lourenço, Patrícia Dias, Raquel Gouveia, Ana Berta Sousa, Graça Oliveira

Journal:

 

McCune-Albright syndrome is a rare sporadic disease characterized by fibrous bone dysplasia, café-au-lait skin spots and variable hyperfunctional endocrinopathies. McCune-Albright syndrome is caused by somatic postzygotic activating mutations in the GNAS gene that produce a broad ...

Last Updated: 5 Sep 2015

Go To URL
McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.
 

Author(s): Anna Angelousi, Filip Fencl, Fabio R Faucz, Jana Malikova, Zdenek Sumnik, Jan Lebl, Constantine A Stratakis

Journal: Hormones (Athens). ;14(3):447-50.

 

Corticotropin (ACTH)-independent hypercortisolism due to bilateral adrenocortical hyperplasia (BAH) in infancy is an extremely rare condition that is often caused by McCune Albright syndrome (MAS). MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic ...

Last Updated: 3 Aug 2015

Go To URL
Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome.
 

Author(s): Maria Francesca Messina, Tommaso Aversa, Luisa de Sanctis, Malgorzata Wasniewska, Mariella Valenzise, Giovanni Battista Pajno, Filippo De Luca, Fortunato Lombardo

Journal: Hormones (Athens). ;14(2):286-92.

 

This study was carried out because of the rarity of peripheral precocious puberty (PPP) in boys with McCune-Albright syndrome (MAS) and the lack of data on adult height of treated MAS males, treatment for this disorder being not as yet standardized.

Last Updated: 10 Jul 2015

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "McCune Albright syndrome" returned 9 free, full-text review articles on human participants. First 3 results:

Acromegaly and McCune-Albright syndrome.
 

Author(s): Sylvie Salenave, Alison M Boyce, Michael T Collins, Philippe Chanson

Journal: J. Clin. Endocrinol. Metab.. 2014 Jun;99(6):1955-69.

 

McCune-Albright syndrome (MAS) includes the triad of poly/monostotic fibrous dysplasia, café-au-lait spots, and hyperfunctioning endocrinopathies. Acromegaly affects around 20% of MAS patients.

Last Updated: 4 Jun 2014

Go To URL
Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
 

Author(s): Paraskevi Salpea, Constantine A Stratakis

Journal: Mol. Cell. Endocrinol.. 2014 Apr;386(1-2):85-91.

 

Endocrine neoplasia syndromes feature a wide spectrum of benign and malignant tumors of endocrine and non-endocrine organs associated with other clinical manifestations. This study outlines the main clinical features, genetic basis, and molecular mechanisms behind two multiple endocrine ...

Last Updated: 3 Mar 2014

Go To URL
McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia.
 

Author(s): Michael T Collins, Frederick R Singer, Erica Eugster

Journal: Orphanet J Rare Dis. 2012 May;7 Suppl 1():S4.

 

Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated ...

Last Updated: 29 May 2012

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome
 

Status: Recruiting

Condition Summary: McCune Albright Syndrome

 

Last Updated: 2 Jun 2016

Go to URL
Histamine Responsiveness in McCune-Albright Syndrome
 

Status: Recruiting

Condition Summary: McCune-Albright Syndrome

 

Last Updated: 1 May 2006

Go to URL
TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE
 

Status: Recruiting

Condition Summary: Fibrous Dysplasia of Bone

 

Last Updated: 14 Mar 2013

Go to URL