Clinical Case of Mccune-Albright-Braitsev Syndrome (MAS)

نویسندگان

چکیده

The presented clinical case describes orphan disease known as MAS with manifested symptoms of precocious puberty, recurrent ovarian cysts, fibrous dysplasia, café-au-lait skin pigmentation and abnormal cardiac conduction. pathogenesis is based on the GNAS gene mutation that cause hyperactivation glycoprotein hormone receptors hypersecretion. There are genetic tests confirm diagnosis, however, given high percentage false negative results, in most cases diagnosed a combination laboratory-instrumental data. Given variability absence management algorithms for patient this syndrome, article pinpoints necessity thorough examination patients to select further tactics. Multidisciplinary approach collegiate will improve diagnosis prevent development severe complications.

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McCune-Albright syndrome: Report of a case

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ژورنال

عنوان ژورنال: ??????????? ??????? ??? ??????

سال: 2023

ISSN: ['2618-7876', '2219-8075']

DOI: https://doi.org/10.21886/2219-8075-2023-14-3-37-40