2019Journal of Kermanshah University of Medical SciencesOpen access

McCune-Albright Syndrome; Polyostotic Fibrous Dysplasia, Hyperthyroidism and Café-Au-Lait Spots: A Case Report

Rozita Naseri, Zahra Jamadi, Arezoo Saeedinia

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Abstract

: McCune-Albright syndrome (MAS) is a uncommon disease caused by a mutation in the GNAS1 gene and is associated with exposure to dysplasia of polypropylene fibers (PFD), Café-au-lait spots and hyperfunctioning endocrinopathies mostly including hyperthyroidism and precocious puberty (PP). The present article describes an eight-year-old boy presenting to a physician for the first time at the age of four owing to recurrent pathological fractures of the femur as well as hyperthyroidism, which was found in physical examinations to be associated with several nodules in the thyroid.

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What this paper is about

: McCune-Albright syndrome (MAS) is a uncommon disease caused by a mutation in the GNAS1 gene and is associated with exposure to dysplasia of polypropylene fibers (PFD), Café-au-lait spots and hyperfunctioning endocrinopathies mostly including hyperthyroidism and precocious puberty (PP). The present article describes an eight-year-old boy presenting to a physician for the first time at the age of four owing to recurrent pathological fractures of the femur as well as hyperthyroidism, which was found in physical examinations to be associated with several nodules in the thyroid.

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Available abstract

: McCune-Albright syndrome (MAS) is a uncommon disease caused by a mutation in the GNAS1 gene and is associated with exposure to dysplasia of polypropylene fibers (PFD), Café-au-lait spots and hyperfunctioning endocrinopathies mostly including hyperthyroidism and precocious puberty (PP). The present article describes an eight-year-old boy presenting to a physician for the first time at the age of four owing to recurrent pathological fractures of the femur as well as hyperthyroidism, which was found in physical examinations to be associated with several nodules in the thyroid.

Key concepts: McCune–Albright syndrome, Polyostotic fibrous dysplasia, GNAS complex locus, Café au lait spot, Medicine, Fibrous dysplasia, Precocious puberty, Pediatrics

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