Case Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism

Case Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism

McCune–Albright syndrome (MAS) is a rare genetic disorder caused by somatic activating variants of the GNAS gene. Due to the mosaic state of the variants, the clinical presentation of MAS varies widely depending on the tissues involved. We present a case of a 40-year-old woman who was admitted to th...

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Bibliographic Details
Main Authors: Anna Bogusławska, Maria Komisarz-Calik, Alicja Hubalewska-Dydejczyk, Márta Korbonits, Pauline Romanet, Anne Barlier, Aleksandra Gilis-Januszewska
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Endocrinology
Subjects:
McCune-Albright syndrome
acromegaly
tertiary hyperparathyroidism
GNAS gene
fibrous dysplasia (FD)
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1464945/full
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https://www.frontiersin.org/articles/10.3389/fendo.2025.1464945/full

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