case-presentation_67

• Patients with MAS have a somatic (postzygotic) mutation of the alpha subunit of the G protein that activates adenylyl cyclase.
•  This mutation leads to continued stimulation of endocrine function (eg, precocious puberty, thyrotoxicosis, gigantism or acromegaly, Cushing syndrome, and hypophosphatemic rickets) in various combinations.
•  Mutations can be found in other non-endocrine organs (liver and heart) resulting in cholestasis and/or hepatitis, intestinal polyps, and cardiac arrhythmias, respectively. A heightened risk of malignancy has also been reported
• Germline occurrences of this mutation would presumably be lethal