McCune-Albright syndrome

From IDWiki

Definition

  • Early fetal mutation resulting in a syndrome consisting of fibrous bone dysplasia, cafe-au-lait spots, and hyperfunctioning endocrinopathies, including precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting

Etiology

  • Gain-of-function mutation of the GNAS gene early in fetal development

Epidemiology

  • 1 in 100,000 to 1 in 1,000,000

Management

  • Surveillance
    • CT head to follow craniofacial dysplasia
    • Gonadal ultrasound q1yr to follow testicular lesions
    • Thyroid ultrasound q1yr to follow thyroid lesions
  • Symptomatic treatment
    • Fibrous dysplasia: bisphosphonates improve pain
    • Precocious puberty
    • Growth hormone excess: octreotide or pegvisomant or surgery (but very difficult given craniofacial dysplasia)
    • Hyperthyroidism: irradiation or surgery