Sipple's syndrome
The symptoms may vary, but are consistent with those of pheochromocytoma, medullary carcinoma of the thyroid, or sometimes hyperparathyroidism.
Diagnosis depends on identification of a mutation in the RET gene. This can be done with a blood test.
A physical examination may reveal enlarged cervical (neck) lymph nodes. An examination of the thyroid may reveal one or more thyroid nodules. The patient may have high blood pressure (continual or sporadic), rapid heart rate and fever.
Patients with MEN IIb may have benign tumors (neuromas) of the mucosa, as well as puffy lips and a prominent jaw.
Diagnostic tests are used to evaluate the function of each endocrine gland. The following tests help confirm the diagnosis: