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McCune-Albright Syndrome Medication

  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
 
Updated: Jan 13, 2015
 

Medication Summary

At present, no therapy addresses the underlying molecular problem in McCune-Albright syndrome (MAS) (ie, inappropriate activation of the G protein subunit Gs alpha). Various medications may be administered to correct various endocrine and metabolic derangements, including aromatase inhibitors, hormones, steroids, somatostatin analogues, dopamine agonists, bisphosphonates, estrogen receptor antagonists, antithyroid agents, and metabolic agents.

In a 2014 study, alendronate therapy induced improvement in aBMD and decreased the level of the bone resorption marker NTX-telopeptides but did not effect pain or functional parameters or serum osteocalcin.[54]

Continuous positive effect with long-term safety data was found for zoledronic acid therapy for MAS with severe bone destruction.[55]

Combined therapy with cyproterone acetate, ketoconazole, and leuprolide depot in a boy with concomitant atypical MAS increased predicted adult height.[56]

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Aromatase Inhibitors

Class Summary

Aromatase inhibitors are the mainstay of therapy in girls with persistent estradiol elevation. They have also been used in males. With adequate treatment response, serum estrone and estradiol levels are reduced. Patients who respond to treatment should continue therapy until the age of normal puberty or until a bone age of 15-16 years. Among the potential adverse effects associated with medication use are transient abdominal cramping, diarrhea, and mild hepatic inflammation.

Anastrozole (Arimidex)

 

Anastrozole is a highly selective aromatase inhibitor that significantly lowers serum estradiol concentrations by inhibiting the conversion of adrenally generated androstenedione to estrone. Daily dosing is convenient, and case reports have shown good response; however, larger studies are still needed.

Letrozole (Femara)

 

Letrozole is a competitive inhibitor of the aromatase enzyme system that leads to a reduction in plasma estrogen levels in postmenopausal women. Although this agent has been used extensively in breast cancer treatment, experience to date in MAS management is limited. Letrozole may decrease pain in patients whose conditions have previously failed other treatments.

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Progestins

Class Summary

Hormones are given to correct endocrine disorders associated with sexual precocity manifestations (98% of cases), such as pubarche, menarche, and thelarche.

Medroxyprogesterone (Provera, Depo-Provera)

 

Progestins stop endometrial cell proliferation, allowing organized sloughing of cells after withdrawal. Medroxyprogesterone typically does not stop an acute bleeding episode but produces a normal bleeding episode after withdrawal.

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Corticosteroids

Class Summary

Glucocorticoids are used for replacement therapy after adrenalectomy for infantile Cushing syndrome.

Mineralocorticoids are used for replacement therapy after adrenalectomy for infantile Cushing syndrome. They act on fluid and electrolyte balance and enhance sodium reabsorption in the kidney, resulting in expanded extracellular fluid volume. They increase renal excretion of potassium and hydrogen ions.

Hydrocortisone (Cortef, Solu-Cortef, A-Hydrocort)

 

Hydrocortisone is the drug of choice for glucocorticoid replacement because of its mineralocorticoid activity and glucocorticoid effects. A double or triple dose is required for febrile illnesses. Doses as high as 10 times the maintenance level may be needed in the context of severe stress (eg, from trauma, critical illness, or surgery).

Fludrocortisone

 

Fludrocortisone is used as partial replacement therapy for primary and secondary adrenocortical insufficiency.

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Somatostatin Analogues

Class Summary

Somatostatin analogues inhibit growth hormone (GH) secretion and adenoma growth in somatotroph adenomas. They are used in treatment of patients with acromegaly and hormone-secreting tumors.

Octreotide (Sandostatin)

 

Octreotide is a potent, long-acting analogue of somatostatin. Like natural somatostatin, it inhibits GH secretion, insulin secretion and glucagon secretion. After intravenous (IV) administration, basal serum GH, insulin, and glucagon levels are lowered. Octreotide also inhibits prolactin secretion via vasoactive intestinal peptide (VIP)-mediated and thyrotropin-releasing hormone (TRH)-mediated secretion of prolactin.

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Antiparkinson Agents, Dopamine Agonists

Class Summary

Dopamine receptor agonists have been used as adjuncts to octreotide for inhibiting GH release from somatotroph adenomas. Some of them have dopaminergic properties that inhibit prolactin secretion.

Bromocriptine (Parlodel)

 

Bromocriptine is a semisynthetic ergot alkaloid derivative that is a strong dopamine D2-receptor agonist and a partial dopamine D1-receptor agonist. It has been successful in further reducing GH levels in acromegalic patients treated with octreotide, though it is not generally a first-line therapy. It is indicated for amenorrhea or galactorrhea secondary to hyperprolactinemia in the absence of primary tumor.

Cabergoline

 

Cabergoline has been successful in further reducing GH levels in acromegalic patients treated with or without octreotide, though it is not generally a first-line therapy.

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Bisphosphonates

Class Summary

Bisphosphonates are stable analogues of pyrophosphate and potent inhibitors of bone resorption and bone turnover. They are used to prevent the bone resorption and pain of polyostotic fibrous dysplasia (PFD).

Pamidronate (Aredia)

 

Pamidronate has been successful in treating the pain of PFD; it may have some benefit in increasing bone mineral density as well.

Alendronate (Fosamax, Binosto)

 

Alendronate has been successful in treating the pain of PFD; it may have some benefit in increasing bone mineral density as well. It offers the additional benefit of oral administration.

Ibandronate (Boniva)

 

Ibandronate increases BMD and reduces the incidence of vertebral fractures. Ibandronate increases BMD at the spine by 5.7-6.5% and the hip by 2.4-2.8%. It reduces vertebral fractures by 50% with intermittent (nondaily) dosing over 3 years; it has no effects on reduction of nonvertebral fractures. Ibandronate is approved for the treatment and prevention of postmenopausal osteoporosis. It is available as a 150-mg oral tablet and intravenous solution.

Risedronate (Actonel, Atelvia)

 

Risedronate is a potent antiresorptive agent that does not affect bone mineralization. The inclusion of an amino group within the heterocyclic ring makes risedronate one of the most potent antiresorptive bisphosphonates. As with other bisphosphonates, risedronate inhibits osteoclast formation and activity. Risedronate increases BMD at the spine by 5.4% and the hip by 1.6%. It reduces vertebral fractures by 41% and nonvertebral fractures by 39% over 3 years. It is approved for the treatment and prevention of postmenopausal osteoporosis, male osteoporosis, and glucocorticoid-induced osteoporosis.

Zoledronic acid (Reclast)

 

Zoledronic acid inhibits bone resorption by altering osteoclast activity and by inhibiting normal endogenous, as well as tumor-induced, mediators of bone degradation. Like other bisphosphonates, zoledronic acid binds to hydroxyapatite crystals in mineralized bone matrix. The binding to calcium phosphates slows the dissolution of hydroxyapatite crystals and inhibits the formation and aggregation of these crystals. It increases BMD at the spine by 4.3-5.1% and at the hip by 3.1-3.5%, as compared with placebo. It reduces the incidence of spine fractures by 70%, hip fractures by 41%, and nonvertebral fractures by 25% over 3 years.

Zoledronic acid is approved for the treatment and prevention of postmenopausal osteoporosis, glucocorticoid-induced osteoporosis, osteoporosis in men, and Paget disease of bone. It is contraindicated in patients with severe renal failure.

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Estrogen Receptor Antagonists

Class Summary

Estrogen receptor antagonist therapy represents a newer approach to the treatment of persistent estradiol elevation in girls.

Raloxifene (Evista)

 

The biological actions of raloxifene are largely mediated through binding to estrogen receptors, which results in activation of estrogenic pathways in some tissues (agonism) and blockade of estrogenic pathways in others (antagonism). Raloxifene increases BMD at the spine and the hip. It reduces the incidence of spine fractures by 30-55% over 3 years. Raloxifene is approved for the prevention and treatment of postmenopausal osteoporosis in women. It is available as 60-mg tablets that are given orally daily. Adverse reactions commonly seen include hot flashes, leg cramps, peripheral edema, flu syndrome, arthralgia, and sweating.

Tamoxifen (Soltamox)

 

Tamoxifen competitively binds to estrogen receptors, producing a nuclear complex that decreases DNA synthesis and inhibits estrogen effects. It blocks the end-organ effects of abnormal estrogen exposure in prepubertal girls.

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Antithyroid Agents

Class Summary

Antithyroid agents block production of thyroid hormone in functional thyroid nodules and are used in palliative treatment of hyperthyroidism.

Propylthiouracil (PTU)

 

Propylthiouracil is a derivative of thiourea that inhibits organification of iodine by the thyroid gland. It blocks oxidation of iodine in the thyroid gland, thereby inhibiting thyroid hormone synthesis; it also inhibits conversion of thyroxine to triiodothyronine (and thus possesses an advantage over other agents).

Methimazole (Tapazole)

 

Methimazole inhibits thyroid hormone by blocking oxidation of iodine in the thyroid gland. It is used to decrease the production of thyroid hormone in functional thyroid nodules associated with MAS. Hyperthyroidism in MAS, unlike autoimmune-mediated hyperthyroidism, is likely to require long-term treatment.

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Vitamins, Fat-Soluble

Class Summary

Metabolic agents are indicated to correct deficiencies leading to hypoparathyroidism, as well as to treat hypercalcemia and prevent bone loss.

Ergocalciferol (Calciferol, Drisdol)

 

Ergocalciferol stimulates absorption of calcium and phosphate from the small intestine and promotes release of calcium from bone into blood.

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Contributor Information and Disclosures
Author

Gabriel I Uwaifo, MD Associate Professor, Section of Endocrinology, Diabetes and Metabolism, Louisiana State University School of Medicine in New Orleans; Adjunct Professor, Joint Program on Diabetes, Endocrinology and Metabolism, Pennington Biomedical Research Center in Baton Rouge

Gabriel I Uwaifo, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Medical Association, American Society of Hypertension, Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Nicholas J Sarlis, MD, PhD, FACP Vice President, Head of Medical Affairs, Incyte Corporation

Nicholas J Sarlis, MD, PhD, FACP is a member of the following medical societies: American Association for the Advancement of Science, American Association for Cancer Research, American Association of Clinical Endocrinologists, American College of Physicians, American Federation for Medical Research, American Head and Neck Society, American Medical Association, American Society for Radiation Oncology, American Thyroid Association, Endocrine Society, New York Academy of Sciences, Royal Society of Medicine, Association for Psychological Science, American College of Endocrinology, European Society for Medical Oncology, American Society of Clinical Oncology

Disclosure: Received salary from Incyte Corporation for employment; Received ownership interest from Sanofi-Aventis for previous employment; Received ownership interest/ stock & stock option (incl. rsu) holder from Incyte Corporation for employment.

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

Noah S Scheinfeld, JD, MD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, International Society for Clinical Densitometry, Southern Society for Clinical Investigation, American College of Medical Practice Executives, American Association for Physician Leadership, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society

Disclosure: Nothing to disclose.

Acknowledgements

Bruce A Boston, MD Chief, Division of Pediatric Endocrinology, Director, Pediatric Endocrine Training Program, Doernbecher Children's Hospital; Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Oregon Health and Science University School of Medicine

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.

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS Professor of Medicine (Endocrinology, Adj), Johns Hopkins School of Medicine; Affiliate Research Professor, Bioinformatics and Computational Biology Program, School of Computational Sciences, George Mason University; Principal, C/A Informatics, LLC

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Endocrinology, American College of Nutrition, American College of Physicians, American College of Physicians-American Society of Internal Medicine, American Medical Informatics Association, American Society for Bone and Mineral Research, Endocrine Society, and International Society for Clinical Densitometry

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, 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.

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.

Dirk M Elston, MD Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Sherry L Franklin, MD, FAAP Medical Director, Pediatric Endocrinology of San Diego Medical Group, Inc

Sherry L Franklin is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Pediatric Endocrine Society, and The Endocrine Society.

Disclosure: Nothing to disclose.

Stephen Kemp, MD, PhD Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, 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.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; 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.

Eleanor E Sahn, MD Director, Division of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina

Eleanor E Sahn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Southern Medical Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

D Stanton Whittaker Jr, MD Consulting Staff, Boone Dermatology Clinic

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.

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Base of the skull computed tomography scan showing extensive fibrous dysplasia in McCune-Albright syndrome. Note the asymmetrical affectation, with near-total obliteration of various neural foramina at the base of the skull. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling.
Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule/patch. The degree of pigmentation is fairly uniform.
Fibrous dysplasia of a long bone characterized by focal bony expansion, patchy areas of sclerosis, and bony cyst formation in McCune-Albright syndrome.
Plain skull radiograph in a typical McCune-Albright syndrome case shows marked macrocrania, frontal bossing, and markedly thickened bony table in patchy areas, particularly at base of skull and occiput. Skull also shows hair-on-end appearance, which needs to be differentiated from similar radiologic appearances in Paget disease or poorly controlled hemoglobinopathy (eg, beta-thalassemia, sickle cell disease).
Large café-au-lait patches around shoulder in child with McCune-Albright syndrome.
Lucency characteristic of polyostotic fibrous dysplasia in patient with McCune-Albright syndrome.
Café-au-lait pigmentation in case of McCune-Albright syndrome. Lesion does not cross midline, which is typical of pigmented lesions in this syndrome.
Adrenal hyperplasia with nodular elements in adrenal gland isolated from infant with infantile Cushing syndrome in the context of McCune-Albright syndrome. DNA isolated from nodular tissue was determined to have activating Gs alpha mutation (GNAS1), whereas DNA isolated from surrounding tissue did not contain this mutation.
The G protein cycle begins with ligand binding to a 7-transmembrane domain G protein-coupled receptor (GPCR). Binding of the cognate ligand forms a ligand-receptor complex, which then stimulates an exchange of guanosine triphosphate (GTP) for guanosine diphosphate (GDP) on the alpha subunit of the stimulatory G protein (Gs alpha). This activates the alpha subunit, which subsequently stimulates adenylyl cyclase (AC) to increase production of cyclic adenosine monophosphate (cAMP). The alpha subunit contains intrinsic guanosine triphosphatase (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 ligand-receptor binding, so that the next cycle of signal transduction can occur.
Mutations in McCune-Albright syndrome inactivate intrinsic guanosine triphosphatase (GTPase) activity, thus preventing inactivation of the "turned-on" Gs alpha subunit. Once activated, the mutated Gs alpha subunit is able to continuously stimulate adenylyl cyclase, even in absence of ligand binding to its cognate GPCR receptor. The result is elevation of intracellular cyclic adenosine monophosphate (cAMP) and continual stimulation of downstream cAMP signaling cascades.
 
 
 
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