How is McCune-Albright syndrome (MAS) treated?

Updated: Jan 05, 2021
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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McCune-Albright syndrome (MAS) is a multisystemic condition with a host of variable presentations. Diagnosis and treatment of this syndrome require a high index of suspicion in any patient with characteristic café-au-lait spots and endocrine dysfunction or pathologic fractures. No measures are available to prevent MAS; however, appropriate care must be taken for fracture prevention in patients with severe polyostotic fibrous dysplasia (PFD).

For most physicians who are not endocrinologists, the crucial treatment aims are recognition of MAS and prompt referral of the patient to an endocrinologist who is experienced in its management. The endocrinologist, in turn, offers other referrals (eg, to an orthopedic surgeon or neurosurgeon) as indicated. An astute primary care physician (a pediatrician or an internist, depending on the age of the patient) who will coordinate the various aspects of the patient’s care is also necessary.

No specific medications are available to treat the bone manifestations of MAS. Antiresorptive agents (eg, alendronate and its congeners [bisphosphonates]) are being evaluated for this indication and have great palliative value owing to their pain-controlling attributes in this disease. Transsphenoidal surgery remains difficult secondary to massive thickening of the skull base. Irradiation of the bone should be avoided unless the treatment is absolutely necessary, because irradiation may increase the risk for sarcomatous degeneration. [18]

The precocious puberty of MAS generally does not respond to gonadotropin-releasing hormone (GnRH) agonists, and short-acting aromatase inhibitors have had limited effectiveness. Inconsistent results have been reported with bromocriptine, cabergoline, octreotide, or a combination of these. Pegvisomant, a growth hormone (GH) receptor antagonist, is a possibility, though it has not been specifically evaluated for treatment of MAS with GH pathology. [18]

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