ArticleOxford medical case reports2025
A rare case of McCune-Albright syndrome in a young male with hyperthyroidism and hypertrophic scars.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
McCune-Albright syndrome (MAS) is somatic mosaicism disorder due to mutations in GNAS gene leading to a combination of fibrous dysplasia of bone, café-au-lait skin lesion and hyperfunctioning endocrinopathies. We report an 11-year-old boy who presented with bone pains and easy fractures with minor traumas that were treated with surgeries. He had multiple café-au-lait lesions, hypertrophic scars of prior surgeries and deformities of bones on examination and primary hyperthyroidism on investigation. His condition was initially misdiagnosed as osteogenesis imperfecta but the finding of hyperthyroidism reaffirms the diagnosis of MAS. He was treated with pamidronate, carbimazole and surgical operations to correct bony deformities.
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