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McCune-Albright Syndrome (MAS)

International Birth Defects Information Systems

McCune-Albright Syndrome (MAS)

Topics: | McCune Albright Syndrome | Polyostotic Fibrous Dysplasia |

Related Topics : | Birth Defects |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | French | Italian | Ukrainian |

McCune-Albright Syndrome
Bruce A Boston, MD, eMedicine Journal, January 7, 2001, Volume 2, Number 1
Visitor Comments [for Professionals mainly]
Classic form consists of at least 2 features of the triad of polyostotic fibrous dysplasia … skin pigmentation, and autonomous endocrine hyperfunction … McCune and Albright separately reported the most complete early descriptions of the syndrome in 1937 … The most common form of autonomous endocrine hyperfunction in this syndrome is gonadotropin independent precocious puberty … also have hyperthyroidism, hypercortisolism, pituitary gigantism, or acromegaly … hypophosphatemia, chronic liver disease, tachycardia, and, rarely, sudden death, possibly from cardiac arrhythmias. Fibrous dysplasia in the McCune-Albright syndrome can involve any bone but most commonly affects the long bones, ribs, and skull …  Hypophosphatemia is a result of decreased reabsorption of phosphate in the renal tubule, similar to the phosphaturia seen with hyperparathyroidism … Hepatic abnormalities range from mild elevation of hepatic transaminases to severe neonatal jaundice and chronic cholestasis … Many case reports … describe sudden death … The exact incidence is unknown ... Hyperthyroidism can cause severe failure to thrive in infants and young children … Sex: Gonadotropin independent precocious puberty is far more common in affected girls than in boys … Symptoms of an intracranial process, such as abrupt vision changes, nighttime headaches, and/or nighttime emesis, are suggestive of hypothalamic lesions that can lead to gonadotropin dependent precocious puberty … Differentials ... Acromegaly, Glucocorticoid Therapy and Cushing Syndrome, Hyperthyroidism, Hypophosphatemic Rickets, Neurofibromatosis … The focus of therapy in McCune-Albright syndrome is to decrease secretion of the hormones  … no therapy addresses the underlying molecular problem, ie, the inappropriate activation of the Gsa subunit ... Testolactone (Teslac)- Blocks the conversion of testosterone to estradiol … Methimazole (Tapazole)- Used to decrease the production of thyroid hormone in functional thyroid nodules associated with McCune-Albright syndrome … Octreotide (Sandostatin)- Potent, long-acting analogue of somatostatin. This drug acts at the somatotroph to inhibit release of GH from the pituitary gland ...

McCune-Albright Syndrome
National Institute of Child Health & Human Development
Visitor Comments [Support Groups]
McCune-Albright syndrome is a disease that affects the bones, skin, and endocrine (hormone) system.  It results from a change (or mutation) in a gene that occurs by chance in the womb.  Because it occurs by chance, it is not inherited and passed down from one generation to the next

Analysis of 113 Patients with Signs of McCune-Albright Syndrome
S. Lumbroso et al. The Journal of Clinical Endocrinology & Metabolism Vol. 89, No. 5 2107-2113
Visitor Comments [for Professionals mainly]
... sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and peripheral precocious puberty ... postzygotic activating mutations of arginine 201 in the guanine-nucleotide-binding protein (G protein) -subunit (Gs), leading to a mosaic distribution of cells bearing constitutively active adenylate cyclase ... mutation was found in more than 90% of the patients ... Skin was a noteworthy exception because only three of the 11 skin samples were positive ...

McCune-Albright syndrome associated with pituitary microadenoma: patient report
J Pediatr Endocrinol Metab. 2004 Mar;17(3):365-9.
Visitor Comments [for Professionals mainly]
... characterized by the classic triad of precocious puberty, polyostotic fibrous dysplasia and cafe-au-lait spots ... Additional endocrine abnormalities may also be present, including hyperthyroidism, growth hormone excess and hyperprolactinemia ... precocious puberty is typically the initial manifestation of MAS in girls ... Ovarian cysts may be detected on pelvic ultrasound ...

McCune-Albright syndrome
Visitor Comments [for Parents]
A disease of unknown cause affecting the bones and pigmentation of the skin, and causing premature sexual development … abnormal fibrous dysplasia (abnormal fibrous development) in the bone that can lead to fractures or deformities. Deformity may appear in the facial bones causing cosmetic problems. In addition, the children have café-au-lait spots, which may be present from birth. Bone changes in the skull can lead to blindness or deafness ...

The Paget Foundation For Paget Disease of Bone and Related Disorders
Visitor Comments [Support Groups]
Any bone can be affected…some patients, only one bone is affected (monostotic fibrous dysplasia), whereas in other patients numerous bones are affected (polyostotic fibrous dysplasia). The most common sites are the femur (thigh bone), tibia (shin bone), ribs, skull, facial bones, humerus (upper arm), and pelvis … Fibrous dysplasia is a very rare disorder … caused by an abnormal chemical “switch” (called the Gs-alpha protein) in the affected cells … Is fibrous dysplasia inherited?  No …

McCune-Albright Syndrome Division
The MAGIC Foundation for Children’s Growth Chicago, Illinois, December 20, 2007
Visitor Comments [Support Groups] [for Parents]
Penelope Philbrick Feuillan, M.D. Pediatric Endocrinologist Bethesda, Maryland. 

McCune-Albright syndrome
MEDLINE Plus, National Library of Medicine, National Institutes of Health, August 11, 2006
Polyostotic fibrous dysplasia; Osteitis fibrosa cystica ... A genetic disease affecting the bones and pigmentation of the skin, and causing hormonal problems featuring premature sexual development ... The hallmark of McCune-Albright syndrome is premature puberty in the female which may begin at variable ages. … menses may begin in early childhood long before the appearance of breast or pubic hair development. Early sexual development in the male is present, but it is not as common as in females ...

McCune-Albright Syndrome with Fibrous Dysplasia
Archie R. McGowan, M.D. and Daniel S. Williamson, M.D., Ph.D., Harvard University, Brigham Hospital, March 5, 1996
left hand demonstrates multiple large expansile “bubbly” lytic lesions with sharp transition zones and without an associated periosteal reaction … The lesions are located in the phalanges, carpels, metacarpals, distal ulna and radial bones … Differential Diagnosis, Fibrous dysplasia, Enchondroma, Eosinophylic granuloma, Metatstatic disease, Hyperparathyroidism, Thalassemia, Chondroblastoma ...

McCune-Albright Syndrome
Dr. Ali Tassi, et al, Ohio State University, Postdoctoral General Dentistry
Lecture Slides

Le syndrome de McCune-Albright (SMA)
Visitor Comments [Support Groups] [French]
ASSYMCAL, Association des maladies du syndrome de McCune / Albright Et de dysplasie fibreuse des os Le Sylvéréal 38, allée des Pins 13009 MARSEILLE. Tél – fax: 04 91 41 78 86. e-mail: ...
Il est caractérisé par: une puberté précoce, des taches cutanées café-au-lait, une dysplasie fibreuse osseue, Ces trios symptoms bien que formant un triptyque ne sont pas toujours presents, ils peuvent éventuellement apparaître á divers moments de l’évolution de la maladie. Les manifestations: La puberté: elle peut intervenir trés tôt, á quelques mois ou quelques années. Elle est généralement due á une stimulation non de l’hypophyse mais des ovaries. Du fait de cette puberté précoce, la croissance est accélérée, et l’âge osseux est en avance par rapport à l’âge reel, D’autres glandes endocrines, comme les surrénales, peuvent être affectées, Des taches cutanées café-au-lait á bord frangé et irrégulier. Ces taches peuvent se situer généralement en haut des fesses our á la nuque et en general du côté oú les lesions osseuses seraient les plus importantes ...

Albright, syndrome: sites francophones
Visitor Comments [French]
McCune-Albright syndrome synonyme(s) et inclusion(s) : dysplasie fibreuse polyostotique, puberté précoce indépendante des gonadotrophines chez la fille ...

EAMAS Associazione Europea amici della Sindrome di McCune-Albright
Associazione Europea amici della Sindrome di McCune-Albright, March 19, 2008
Visitor Comments [Italian]
La syndrome di McCune-Albright ... Introduzione, Ezilogia, Epidemilogia, Anomalie Endrocine, Diagnosi, Diagnosi Differenziale, Caratteristiche Secondaire, Cura, La syndrome di McCune-Albright, Studio longitudinale su 32 pazienti, Trattamento della displasia fibrosa con Pamidronato in 9 bambini ...

McCune-Albright Syndrome
I.B.I.S. Birth Defects, September 10, 2003
Visitor Comments [Ukrainian]
A fact sheet for specialists in Ukrainian
Synonyms ... Main diagnostic criteria ... Etiology and pathogenesis ... Diagnosis ... Laboratory tests ... Differential diagnosis ... Treatment and care ...Prognosis ... OMIM number ...


Last Updated: 2008/3/19


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