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