Pediatric McCune-Albright Syndrome Differential Diagnoses

  • Author: Bruce A Boston, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Apr 23, 2010
 
 

Differential Diagnoses

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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 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.

Specialty Editor Board

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, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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; UNESCO Chair on Adolescent Health Care, University of Athens, Athens, 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, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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 Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas College of Medicine 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: Nothing to disclose.

References

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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 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 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 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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