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

Author:

Valeeva F. V.1ORCID,Kiseleva T. A.1ORCID,Shaidullina M. R.1ORCID,Islamova D. R.1ORCID,Gumerova A. K.2ORCID

Affiliation:

1. Kazan State Medical University

2. Children's Republican Clinical Hospital

Abstract

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. The pathogenesis is based on the GNAS gene mutation that cause hyperactivation of glycoprotein hormone receptors and hypersecretion. There are genetic tests that confirm the diagnosis, however, given the high percentage of false negative results, in most cases the disease is diagnosed based on a combination of clinical and laboratory-instrumental data. Given the high clinical variability and absence of management algorithms for patient with this syndrome, the article pinpoints the necessity of thorough examination of patients to select further management tactics. Multidisciplinary approach and collegiate case management will improve diagnosis of the disease and prevent the development of severe complications.

Publisher

Rostov State Medical University

Subject

Pharmacology

Reference7 articles.

1. Petrov Yu.A., Kupina A.D. McCune–Albright–Braitsev Syndrome and its impact on the reproductive health of girls. Reproduktivnoe zdorov’e detey i podrostkov [Pediatric and Adolescent Reproductive Health]. 2019;15(4):96–108. (in Russ.) https://doi.org/10.24411/1816-2134-2019-14010.

2. Plaksina M.I, Vitebskaya A.V. Variability of Symptoms in McCune -Albright -Braitsev Syndrome. Doctor.Ru. 2016;6(123):57-62. (in Russ.) eLIBRARY ID: 26488796.

3. Gerqari AB, Gerqari I, Ferizi M, Halimi S, Daka A, et al. Mc Cune Albright Syndrome –a diagnostic and differential diagnostic problem. Diag Ther Stud. 2013;2(4):63-68.

4. Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008;3:12. https://doi.org/10.1186/1750-1172-3-12

5. Turan S, Bastepe M. GNAS Spectrum of Disorders. Curr Osteoporos Rep. 2015;13(3):146-58. https://doi.org/10.1007/s11914-015-0268-x

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