Definition
McCune-Albright syndrome is a disorder caused by a somatic mutation in the GNAS gene, characterized by fibrous dysplasia of bone, café-au-lait spots, and endocrine overfunction.
Symptoms
- Polycystic fibrous dysplasia (bone pain, deformity)
- Café-au-lait stains (coffee with milk color)
- Endocrine hyperfunction (precocious puberty, hyperthyroidism)
- Short stature
Reasons
Somatic (postzygotic) activating mutation in the GNAS gene.
Diagnosis
Clinical triad, bone X-ray, hormone tests.
Treatment
Symptomatic treatment (painkillers, bisphosphonates), treatment of endocrine problems.
Which Polyclinic Should You Apply To?
Endocrinology Polyclinic or Orthopedic Polyclinic
What to Do in an Emergency?
In case of pathological fracture or severe pain, emergency services should be consulted.
This page is for general information purposes only.