McCune-Albright syndrome without endocrine dysfunction: Case report in a young boy
Journal Title: Indian Journal of Child Health - Year 2017, Vol 4, Issue 4
Abstract
The McCune-Albright syndrome (MAS) is a sporadic rare disease characterized by a triad of physical signs: Café-au lait spots, polyostotic fibrous dysplasia, and autonomous endocrine hyperfunction. Based on the studies, it can be concluded that this syndrome is caused by mutations that happen in the gene: GNAS1. A small number, but not all, of the patient’s cells contain this faulty gene (mosaicism). MAS is predominantly observed in girls and is rarely reported in males. We report a 5-year-old boy with café-au-lait spots, polyostotic fibrous dysplasia, and without any endocrine dysfunction.
Authors and Affiliations
Elkashif Sami, Pankaj Agrawal
Keywords
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