Albright Syndrome Treatment & Management
- Author: Noah S Scheinfeld, MD, JD, FAAD; Chief Editor: Dirk M Elston, MD more...
Medical Care
Medical treatment for McCune-Albright syndrome (MAS) is only partially effective and transsphenoidal surgery remains difficult secondary to massive thickening of the skull base. Radiotherapy is contraindicated because of the possibility of sarcomatous transformation.[24] Their puberty does not generally respond to gonadotropic-releasing hormone agonists, and short-acting aromatase inhibitors have had limited effectiveness. Bromocriptine, cabergoline, and octreotide or a combination of these has demonstrated inconsistent results; pegvisomant, a GH receptor antagonist, is a possibility, although it has not yet been used as a treatment for MAS with GH pathology.[24] Note the following:
- Diagnosis and treatment require a high index of suspicion in any patient with characteristic CALMs and endocrine dysfunction or pathologic fractures.
- Address symptomatic hyperthyroidism with supportive care such as oral or intravenous iodine, antithyroid agents, propranolol, and dexamethasone.
- Address metabolic acidosis by correcting the underlying endocrine disorder and providing supportive care.
- One study found that long-term bisphosphonate treatment had beneficial effects on the bone health of patients with MAS; the fracture rate and bone pain were reduced and radiological evidence of long bone pathology resolution was observed.[29] One other study suggested bisphosphonate may be helpful.[30] However, another report described that bisphosphonate treatment of PFD in children with MAS did not arrest progressive bone pathology.[31]
- Despite disappointing results in other trials, one study indicated gonadotropin-releasing hormone analogue therapy for children has had some success in girls with MAS.[32]
- The third-generation aromatase inhibitor letrozole has had some success.[33]
- Combined treatment with ketoconazole and cyproterone acetate in a boy with MAS and peripheral precocious puberty was used in one report, with some positive effect.[34]
Surgical Care
Ovarian cysts occur frequently in females with PPP with MAS.[35] Surgery remains an option for the evaluation and treatment of cysts.
Laparoscopy minimizes surgical aggression and allows for the acquisition of tissue biopsy specimens for molecular analysis. Additionally, hyperestrogenism can be arrested with the excision of hyperactive ovarian tissue. In girls younger than 3 years, laparoscopy can be performed using the transumbilical laparoscopic ovarian cystectomy approach. In older females, traditional techniques are used.
The need for excision of hyperfunctional endocrine tissue is directed by the severity of the patient's endocrine imbalance and the efficacy of medical treatment.
En bloc resection and free metatarsal transfer have been used to treat fibrous dysplasia of the fourth metacarpal associated with MAS.[36]
Consultations
Endocrinologist consultation is indicated because patients may have multiple endocrine defects, which may require careful orchestration of treatment. Orthopedist consultation is indicated for pathologic fractures.
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