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Catalog
Rare Bone Diseases
McCune-Albright
McCune-Albright
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Video Transcription
Video Summary
The video is a part of the Endocrine Society's fellow training series on Rare Bone Disease, focusing on McCoon-Albright syndrome. The syndrome is diagnosed based on characteristic skin findings of cafe au lait spots and precocious puberty. It is caused by a postzygotic somatic activating mutation of GNAS, not inherited. The syndrome can present with various endocrinopathies, including precocious puberty, hyperthyroidism, and hyperparathyroidism. Fibrous dysplasia is a major complication, causing bone pain and deformities. Treatment options include physical therapy, orthopedic surgery, and IV bisphosphonates for pain relief. The risk of McCoon-Albright syndrome for future children is the same as the general population.
Keywords
McCoon-Albright syndrome
cafe au lait spots
precocious puberty
GNAS mutation
fibrous dysplasia
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