eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

McCune-Albright Syndrome: Multimedia

Author: Bruce A Boston, MD, Chief, Division of Pediatric Endocrinology, Director, Pediatric Endocrine Training Program, Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Oregon Health Sciences University and Doernbecher Children's Hospital
Coauthor(s): Marcie K Drury Brown, MD, Fellow in Pediatric Endocrinology, Department of Pediatrics, Oregon Health and Science University
Contributor Information and Disclosures

Updated: Feb 20, 2009

Multimedia

Café au lait pigmentation in a case of McCun...
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Media file 1: Café au lait pigmentation in a case of McCune-Albright syndrome. Lesion does not cross the midline, which is typical of the pigmented lesions in this syndrome.
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Café au lait pigmentation in a case of McCun...

Café au lait pigmentation in a case of McCune-Albright syndrome. Lesion does not cross the midline, which is typical of the pigmented lesions in this syndrome.

Adrenal hyperplasia with nodular elements in an a...
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Media file 2: Adrenal hyperplasia with nodular elements in an adrenal gland isolated from an infant with infantile Cushing syndrome. DNA isolated from nodular tissue was determined to have the activating Gs alpha mutation, whereas DNA isolated from surrounding tissue did not contain the mutation.
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Adrenal hyperplasia with nodular elements in an a...

Adrenal hyperplasia with nodular elements in an adrenal gland isolated from an infant with infantile Cushing syndrome. DNA isolated from nodular tissue was determined to have the activating Gs alpha mutation, whereas DNA isolated from surrounding tissue did not contain the mutation.

The G protein cycle begins with ligand binding to...
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Media file 3: The G protein cycle begins with ligand binding to a 7 transmembrane G protein coupled receptor. The ligand receptor complex stimulates an exchange of guanosine triphosphate (GTP) for guanosine diphosphate (GDP) on the alpha subunit of the stimulatory G protein. This activates the alpha subunit, which subsequently stimulates adenylyl cyclase to increase the production of cyclic adenosine monophosphate (cAMP). The alpha subunit contains intrinsic GTPase activity, which cleaves a phosphate group from GTP, converting it to GDP, and thus inactivates the alpha subunit. The inactivated alpha subunit is now ready to be reactivated by the ligand receptor complex.
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The G protein cycle begins with ligand binding to...

The G protein cycle begins with ligand binding to a 7 transmembrane G protein coupled receptor. The ligand receptor complex stimulates an exchange of guanosine triphosphate (GTP) for guanosine diphosphate (GDP) on the alpha subunit of the stimulatory G protein. This activates the alpha subunit, which subsequently stimulates adenylyl cyclase to increase the production of cyclic adenosine monophosphate (cAMP). The alpha subunit contains intrinsic GTPase activity, which cleaves a phosphate group from GTP, converting it to GDP, and thus inactivates the alpha subunit. The inactivated alpha subunit is now ready to be reactivated by the ligand receptor complex.

Mutations in McCune-Albright syndrome inactivate ...
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Media file 4: Mutations in McCune-Albright syndrome inactivate the intrinsic GTPase activity, thus preventing the inactivation of the Gs alpha subunit. Once activated, the mutated Gs alpha subunit is able to continuously stimulate adenylyl cyclase, even in the absence of ligand binding to the receptor. The result is an elevation of intracellular cyclic adenosine monophosphate (cAMP) and continual stimulation of downstream cAMP signaling cascades.
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Mutations in McCune-Albright syndrome inactivate ...

Mutations in McCune-Albright syndrome inactivate the intrinsic GTPase activity, thus preventing the inactivation of the Gs alpha subunit. Once activated, the mutated Gs alpha subunit is able to continuously stimulate adenylyl cyclase, even in the absence of ligand binding to the receptor. The result is an elevation of intracellular cyclic adenosine monophosphate (cAMP) and continual stimulation of downstream cAMP signaling cascades.

More on McCune-Albright Syndrome

Overview: McCune-Albright Syndrome
Differential Diagnoses & Workup: McCune-Albright Syndrome
Treatment & Medication: McCune-Albright Syndrome
Follow-up: McCune-Albright Syndrome
Multimedia: McCune-Albright Syndrome
References
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References

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  2. McCune DJ, Bruch H. Osteodystrophia Fibrosa: Report of a case in which the condition was combined with precocious puberty, pathologic pigmentation of the skin and hyperthyroidism, with a review of the literature. Am J Dis Child. 1936;806-848.

  3. Akintoye SO, Chebli C, Booher S, et al. Characterization of gsp-mediated groth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab. 2002;87(11):5104-12. [Medline]. [Full Text].

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  23. Shenker A, Weinstein LS, Moran A, et al. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr. Oct 1993;123(4):509-18. [Medline].

  24. Shenker A, Weinstein LS, Sweet DE. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab. Sep 1994;79(3):750-5. [Medline].

  25. Singer FR. Fibrous dysplasia of bone: the bone lesion unmasked. Am J Pathol. Dec 1997;151(6):1511-5. [Medline].

  26. Spiegel AM. The molecular basis of disorders caused by defects in G proteins. Horm Res. 1997;47(3):89-96. [Medline].

  27. Syed FA, Chalew SA. Ketoconazole treatment of gonadotropin independent precocious puberty in girls with McCune-Albright syndrome: a preliminary report. J Pediatr Endocrinol. 1999;12(1):81-3. [Medline].

  28. Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. Dec 12 1991;325(24):1688-95. [Medline].

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Further Reading

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Keywords

McCune-Albright syndrome, polyostotic fibrous dysplasia, café au lait skin pigmentation, autonomous endocrine hyperfunction, precocious puberty, Albright disease, Albright's disease, Albright syndrome, Albright's syndrome, hyperthyroidism, hypercortisolism, pituitary gigantism, acromegaly, hypophosphatemia, chronic liver disease, tachycardia, cardiac arrhythmias, Cushing syndrome, failure to thrive, osteoporosis, hypertension, glucose intolerance, hypertriglyceridemia, vaginal bleeding, neurofibromatosis, optic gliomas, deafness, vertigo, hyperthermia, fibrous dysplasia, rickets, short stature, jaundice, growth hormone excess

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Contributor Information and Disclosures

Author

Bruce A Boston, MD, Chief, Division of Pediatric Endocrinology, Director, Pediatric Endocrine Training Program, Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Oregon Health Sciences University and Doernbecher Children's Hospital
Bruce A Boston, MD is a member of the following medical societies: Alpha Omega Alpha, American Diabetes Association, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Coauthor(s)

Marcie K Drury Brown, MD, Fellow in Pediatric Endocrinology, Department of Pediatrics, Oregon Health and Science University
Marcie K Drury Brown, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, and Oregon Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Arlan L Rosenbloom, MD, Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology
Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London), Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece
George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Endocrinology, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD, Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital
Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research
Disclosure: Genentech, Inc. Honoraria Speaking and teaching; Pfizer, Inc. Honoraria Consulting

 
 
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