Endocrine Abstracts

JOINT402

Introduction: McCune-Albright Syndrome (MAS) is a rare, multisystem disorder arising from a post-zygotic activating mutation in the GNAS gene. This mutation leads to constitutive activation of the G protein α-subunit. The classic triad of MAS includes fibrous dysplasia, café-au-lait spots, and precocious puberty. This case report describes a 65-year-old woman with MAS, highlighting the complexity of managing this condition. It shows the critical role of a multidisciplinary approach, with a focus on surgical interventions and the use of translaryngeal ultrasound (TLUS).

Case Report: A 65-year-old woman presented with a history of MAS diagnosed in early adulthood. At the age of 61, she was diagnosed with hyperthyroidism. This necessitated a total thyroidectomy, which was performed as a staged procedure due to recurrent laryngeal nerve injury (RLN) during the initial right lobectomy. The left lobectomy was delayed until RLN recovered after close monitoring with TLUS. Mild hypercalcemia and neck ultrasonography led to the diagnosis of hyperparathyroidism, which was confirmed by fine-needle aspiration with positive PTH "washout", despite a negative MIBI scan. Surgical intervention included removal of a left lower parathyroid adenoma. Furthermore, the patient developed acromegaly, with elevated IGF-1 levels and characteristic clinical features. This prompted treatment with somatostatin analogues and ultimately two transsphenoidal pituitary surgeries. The procedures were technically challenging due to the presence of extensive fibrous dysplasia of the skull base. The cause of acromegaly was somatotroph hyperplasia involving the entire pituitary gland, with the presence of mammosomatotropic adenoma. The patient also experienced significant skeletal complications due to fibrous dysplasia, requiring multiple orthopedic surgeries.

Discussion: This case underlines the complexity of MAS. The patient showed a range of abnormalities that underscore the need for comprehensive evaluation and personalized treatment. It also presents the surgical challenges, emphasizing the need for careful planning and experienced surgeons. The staged thyroidectomy demonstrates the importance of careful consideration of potential complications, like RLN injury, and the use of tools like TLUS to guide surgical decision-making. Finally, this case reinforces the importance of a coordinated multidisciplinary approach involving different specialists to effectively manage the diverse manifestations of MAS.

Conclusion: This case report illustrates the complex and multifaceted nature of MAS. Surgical intervention plays a crucial role in managing this disorder. The integration of advanced imaging techniques, such as TLUS, can enhance surgical safety and efficacy. A multidisciplinary approach is essential for optimizing patient outcomes and improving the quality of life in individuals with MAS.