The first case report of McCune-Albright syndrome in Syria with late diagnosis

McCune-Albright syndrome is a rare, non-familial disorder characterized by various clinical presentations. While it is well-known for its classic triad of symptoms of fibrous dysplasia, café-au-lait macules, and precocious puberty, McCune-Albright syndrome can also cause a spectrum of endocrine dysf...

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Bibliographic Details
Main Authors: Zeina Kanjo, Ola Faleh, Lilianne Haj Hassan
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Journal of Clinical and Translational Endocrinology Case Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2214624524000017
Description
Summary:McCune-Albright syndrome is a rare, non-familial disorder characterized by various clinical presentations. While it is well-known for its classic triad of symptoms of fibrous dysplasia, café-au-lait macules, and precocious puberty, McCune-Albright syndrome can also cause a spectrum of endocrine dysfunction symptoms. This variability in presentation can lead to extensive manifestations and significant delays in diagnosis, as demonstrated by the following case.A 42-year-old woman presented with a facial bony lesion, coarse features, and extremities enlargement. By returning to the patient's history, the initial manifestation was an undiagnosed painless fibrous dysplasia lesion, found at the age of 15. This atypical presentation, combined with the absence of precocious puberty, effectively masked the underlying McCune-Albright syndrome for decades.By the time of diagnosis, the disease had progressed significantly with polyostotic fibrous dysplasia, and a complex endocrine picture characterized by growth hormone excess, hyperprolactinemia, hypercortisolism, and secondary amenorrhea.
ISSN:2214-6245