View source for McCune-Albright syndrome

== 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

[[Category:Pediatrics]]