McCune-Albright syndrome (MAS) arises from a postzygotic activating mutation of GNAS and can involve pituitary over-activity presenting as gigantism in children and adolescents. Concomitant craniofacial fibrous dysplasia makes surgical cure exceptional in this setting, making sustained medical therapy the cornerstone of management.
Initial medical therapy with a first-generation somatostatin analog (octreotide or lanreotide) was employed. This protocol applies when that approach has not achieved adequate hormonal control of IGF-1 — the primary treatment target in MAS-associated pituitary gigantism.
DOI: 10.1016/B978-0-12-814537-1.00002-6
In MAS, mosaicism for a postzygotic activating mutation of GNAS leads to variable and diverse pathology affecting multiple tissues, classically, fibrous dysplasia of the bone, hormonal over-activity, and distinctive café au lait macules.
Acromegaly forms a part of the MAS spectrum and rarely can have an early onset in children/adolescents, leading to pituitary gigantism.
Pegvisomant is, is contrast, an important treatment option for MAS patients with acromegaly or pituitary gigantism, as control of IGF-1 is usually achieved in compliant patients.
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