Multiple endocrine neoplasia (MEN)... Health Article

Definition

Multiple endocrine neoplasia II (MEN II) is an uncommon condition passed down through families (inherited), in which the thyroid, adrenal, and parathyroid glands are overactive.

See also: MEN I

Alternative Names

Sipple's syndrome

Causes, incidence, and risk factors

The cause of MEN II is a defect in a gene called RET. This defect causes many tumors to appear in the same person, but not necessarily at the same time. The adrenal tumor is called a pheochromocytoma, and the thyroid tumor is a medullary carcinoma of the thyroid.

The disorder may occur at any age, and affects men and women equally. The main risk factor is a family history of MEN II.

There are two similar subtypes of MEN II -- MEN IIa and IIb. MEN IIb is less common.

Symptoms

• Abdominal pain
• Back pain
• Chest pain
• Cough
• Cough with blood
• Depression
• Diarrhea
• Fatigue
• Heart palpitations
• Increased thirst
• Increased urine output
• Irritability
• Loss of appetite
• Muscle weakness
• Nausea
• Nervousness
• Personality changes
• Rapid heart rate
• Severe headache
• Sweating
• Weight loss

The symptoms may vary. However, they are similar to those of:

• Hyperparathyroidism
• Medullary carcinoma of the thyroid
• Pheochromocytoma

Signs and tests

To diagnose this condition, the health care provider looks for a mutation in the RET gene. This can be done with a blood test.

A physical examination may reveal:

• Enlarged lymph nodes in the neck
• Fever
• High blood pressure
• Rapid heart rate
• Thyroid nodules

Diagnostic tests are used to evaluate the function of each endocrine gland. The following tests may be performed:

• Abdominal CT scan
• Adrenal biopsy
• Calcitonin
• Electrocardiogram (ECG)
• Imaging of the kidneys or ureters
• MIBG scintiscan
• MRI of abdomen
• Parathyroid biopsy
• Radioimmune assay of parathyroid hormone
• Serum alkaline phosphatase
• Serum calcium
• Serum phosphorus
• Thyroid biopsy
• Thyroid scan
• Ultrasound of the thyroid
• Urine catecholamines
• Urine metanephrine