McCune-Albright Syndrome; Polyostotic Fibrous Dysplasia, Hyperthyroidism and Café-Au-Lait Spots: A Case Report
| Autor: | Zahra Jamadi, Rozita Naseri, Arezoo Saeedinia |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
musculoskeletal diseases
medicine.medical_specialty endocrine system diseases biology business.industry Thyroid medicine.disease Dermatology McCune–Albright syndrome 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure 030228 respiratory system Dysplasia Café au lait spot medicine GNAS complex locus biology.protein Precocious puberty Femur medicine.symptom Polyostotic fibrous dysplasia business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Kermanshah University of Medical Sciences. 23 |
| ISSN: | 2588-2570 2588-2562 |
| Popis: | 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), Cafe-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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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