McCune-Albright syndrome in adulthood

Area of Science:

• Endocrinology
• Genetics
• Pediatric Endocrinology

Background:

• McCune-Albright syndrome (MAS) is a genetic disorder characterized by cafe-au-lait spots, precocious puberty, and fibrous dysplasia.
• It results from activating mutations in the GNAS gene, leading to constitutive activation of the Gs protein alpha subunit and downstream signaling pathways.
• These mutations cause overproduction of cyclic AMP (cAMP), affecting multiple endocrine glands.

Purpose of the Study:

• To review the clinical manifestations and management of McCune-Albright syndrome (MAS) in adulthood.
• To highlight the evolving challenges faced by endocrinologists, rheumatologists, and gynecologists as patients transition from childhood to adulthood.
• To discuss current and potential therapeutic strategies for MAS-related complications.

Main Methods:

• This is a review article based on existing literature.
• The authors synthesized information on the pathophysiology, clinical features, and management of MAS.
• Focus is placed on adult-onset complications and long-term outcomes.

Main Results:

• Fibrous dysplasia lesions may stabilize post-puberty but can cause chronic pain and fractures.
• Precocious puberty in females often leads to abnormal gonadal function and fertility issues.
• Acromegaly management is complicated by skull-base dysplasia; pegvisomant shows promise.
• Hyperthyroidism is typically managed with surgery or radioiodine.
• Increased cancer incidence (bone, breast, thyroid) is observed in adulthood.

Conclusions:

• McCune-Albright syndrome (MAS) requires lifelong multidisciplinary management, focusing on endocrine, skeletal, and oncologic surveillance.
• Transitioning care to adult specialists is crucial for optimizing outcomes.
• Further research is needed to improve long-term management strategies and address cancer risks.