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Exams and Tests
A physical examination may show signs of:
Abnormal bone growth in the skull
Abnormal heart rhythms (arrhythmias)
Acromegaly
Adrenal abnormalities
Gigantism
Hyperparathyroidism
Hyperthyroidism
Hypophosphatemia
Large café-au-lait spots on the skin
Liver disease, jaundice, fatty liver
Ovarian cysts
Pituitary or thyroid tumors
Scar-like tissue in the bone (fibrous dysplasia)
Tests may show too much:
Adrenal hormones
Blood prolactin
Growth hormone
Other tests that may be done include:
MRI of the head
X-rays of the bones
Genetic testing is available for the GNAS1 gene.