McCune-Albright Syndrome: A Case Report and Literature Review

نویسندگان

  • Moein Mobini Department of pediatric Endocrinology and Metabolism, Mashhad university of medical science, Mashhad, Iran.
  • Rahim Vakili Department of pediatric Endocrinology and Metabolism, Mashhad university of medical science, Mashhad, Iran.
  • Saba Vakili Department of pediatric Endocrinology and Metabolism, Mashhad university of medical science, Mashhad, Iran.
چکیده مقاله:

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.  We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentation and X-ray finding were strongly diagnostic for MAS, Patients with McCune-Albright syndrome reach the adult age with a significant burden of the disease that continuously reduces their quality of life. Skeletal deformities, fractures, hyperthyroidism, and hyperestrogenism are just few of the many challenges in the management of these patients. These disorders with close observation and early detection can be controlled.

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عنوان ژورنال

دوره 2  شماره 2.2

صفحات  153- 156

تاریخ انتشار 2014-04-01

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