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

Authors

  • Elkashif Sami
  • Agrawal Pankaj

DOI:

https://doi.org/10.32677/IJCH.2017.v04.i04.047

Keywords:

Fibrous dysplasia, McCune-Albright syndrome, Polyostotic

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.

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Published

2017-12-25

How to Cite

McCune-Albright syndrome without endocrine dysfunction: Case report in a young boy. (2017). Indian Journal of Child Health, 4(4), 649-651. https://doi.org/10.32677/IJCH.2017.v04.i04.047

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