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Сushing’s syndrome in early infancy due to МcCune—Albright syndrome

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  • Authors: Makazan N.V.1, Orlova E.M.1, Kareva M.A.1, Poddybnyi I.V.2, Tolstov K.N.3, Polyakova G.A.4, Bogdanova P.S.5, Peterkova V.A.1, Dedov I.I.1
  • Affiliations:
    1. Endocrinology Research Centre
    2. Moscow State University of Medicine and Dentistry im. A.I. Evdokimova
    3. Central Pediatric Clinical Hospital
    4. Moscow Regional Scientific and Research Institute named after M.F. Vladimirsky
    5. European Medical Center
  • Issue: Vol 62, No 3 (2016)
  • Pages: 9-15
  • Section: Case Reports
  • URL: https://probl-endojournals.ru/probl/article/view/7873
  • DOI: https://doi.org/10.14341/probl20166239-15
  • Cite item

Abstract


McCune—Albright syndrome (MAS) is a rare multisystem disorder, classically defined by the clinical triad of fibrous dysplasia of bones (FD), café-au-lait skin spots, precocious puberty (PP) and other hyperfunctioning endocrinopathies. Diagnosis can be made if there are at least 2 of the 3 classical features. It is caused by somatic mutations of the GNAS gene encodes stimulate α-subunit of G protein (Gas). Gas is crucial for mediating effects of the lot of peptide hormones. Increased activity of Gas leads to multisystem hyperfunction. Some features are common (such as gonadotropin-independent precocious puberty) and another signs occur seldom. The clinical presentation of MAS is variable, the features occur at the different age. One of the rare feature of the MAS is Cushing’s syndrome due to bilateral adrenal hyperplasia, which usually occurs in the neonatal period. We describe clinical case of ACTH-independent hypercortisolism in the boy with MAS.


Nadezhda V. Makazan

Endocrinology Research Centre

Author for correspondence.
Email: nmakazan@yandex.ru

Russian Federation MD

Elizaveta M. Orlova

Endocrinology Research Centre

Email: elizaveta.orlova@mail.ru

Russian Federation MD, PhD

Maria A. Kareva

Endocrinology Research Centre

Email: i_marusya@mail.ru

Russian Federation MD, PhD

Igor V. Poddybnyi

Moscow State University of Medicine and Dentistry im. A.I. Evdokimova

Email: kntolstov@gmail.com

Russian Federation MD, PhD, Professor

Kirill N. Tolstov

Central Pediatric Clinical Hospital

Email: kntolstov@gmail.com

Russian Federation MD, PhD

Galina A. Polyakova

Moscow Regional Scientific and Research Institute named after M.F. Vladimirsky

Email: koloskovvv@inbox.ru

Russian Federation MD, PhD, Professor

Polina S. Bogdanova

European Medical Center

Email: bogdanova.polina@gmail.com

Russian Federation MD, PhD

Valentina A. Peterkova

Endocrinology Research Centre

Email: peterkovava@hotmail.com

Russian Federation MD, PhD, Professor

Ivan I. Dedov

Endocrinology Research Centre

Email: post@endocrincentr.ru

Russian Federation MD, PhD, Professor

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Copyright (c) 2016 Makazan N.V., Orlova E.M., Kareva M.A., Poddybnyi I.V., Tolstov K.N., Polyakova G.A., Bogdanova P.S., Peterkova V.A., Dedov I.I.

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