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

ABSTRACT: 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 the Pulmonary Unit due to progressive pulmonary insufficiency secondary to severe scoliosis. Upon physical examination, hyperpigmented skin lesions on the neck, features of acromegaly, and scoliosis were noted. Radiographic imaging revealed osteolytic lesions of the axial skeleton, which were suspected to be metastases. Imaging via 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) did not confirm metastases and revealed a pituitary lesion. The laboratory workup confirmed acromegaly

SUBMITTER: Boguslawska A 

PROVIDER: S-EPMC12066269 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature