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

Abstract

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.