McCune-Albright Syndrome: A Comprehensive Review of Pathophysiology, Clinical Manifestations, and Therapeutic Approaches

Abstract

McCune-Albright Syndrome (MAS) is a rare and complex disorder that primarily affects the bones, skin, and endocrine system. It is characterized by a mosaic pattern of somatic mutations in the GNAS gene, leading to constitutive activation of adenylate cyclase and excessive production of cyclic AMP (cAMP). This dysregulated cAMP signaling pathway results in a wide spectrum of clinical manifestations, including polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and various endocrinopathies such as precocious puberty, hyperthyroidism, and hypercortisolism. This comprehensive review aims to provide an in-depth understanding of the pathophysiological mechanisms underlying MAS, a detailed exploration of the diverse clinical features, and a discussion of the current and emerging therapeutic strategies for managing this rare disorder. The article synthesizes research findings, clinical experiences, and genetic insights to shed light on the challenges faced by healthcare providers in diagnosing and treating patients with MAS.