McCune-Albright syndrome without endocrine dysfunction: Case report in a young boy

  • Elkashif Sami
  • Agrawal Pankaj

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.

Keywords: Fibrous dysplasia, McCune-Albright syndrome, Polyostotic
Statistics
104 Views | 93 Downloads
How to Cite
Sami, E., & Pankaj, A. (2017). McCune-Albright syndrome without endocrine dysfunction: Case report in a young boy. Indian Journal of Child Health, 4(4), 649-651. Retrieved from https://atharvapub.net/IJCH/article/view/390
Section
Case Reports