How Do Doctors Diagnose Multiple Endocrine Neoplasia Type 2?

How doctors diagnose Multiple Endocrine Neoplasia Type 2 (MEN2) depends on whether your child has MEN2A or MEN2B.


Children are usually diagnosed because a parent or relative has MEN2. Doctors can diagnose MEN2A in the following ways:

  • Medical and family history
  • Physical exam
  • Genetic testing
  • Laboratory testing and imaging studies
  • If your child or close relatives have at least 2 of the 3 following conditions: MTC, pheochromocytomas, parathyroid adenoma or hyperplasia (when an organ or tissue becomes enlarged)


  • If your child has a combination of MTC and mucosal neuromas
  • Physical exam for the following features: protruding lips, thin facial features, a thin body type and medullated corneal nerve fibers in the eye (when nerve fibers in eye are wrapped in a thin sheet of nerve tissue)
  • Laboratory testing and imaging studies

How Is Multiple Endocrine Neoplasia Type 2 Treated?

There is no cure for MEN2, but there are ways to ease symptoms and lower the risk for the associated tumors. Early and consistent screening is extremely important because many symptoms of MEN2 are not noticeable early on.

Monitoring and Treatment for MEN2:

  • Tumor removal
  • Medications to manage hormonal imbalances resulting from partial or complete removal of an endocrine gland
  • For children with MEN2 who have a higher risk of developing MTC, a thyroidectomy (removal of the thyroid gland). Whether this is necessary and the timing of surgery depends on the specific mutation in the RET gene, blood tests for calcitonin and carcinoembryonic antigen (the two proteins associated with MTC) and thyroid ultrasound results. With certain mutations, your doctor may recommend that your child have a thyroidectomy before the tumor develops. With other mutations, the doctor may recommend that you wait, with close monitoring by your child's care team using blood tests and thyroid ultrasound examinations. If the thyroid is removed, your child needs to take a thyroid hormone replacement pill for the rest of their lives. 

Monitoring and Treatment for Hyperparathyroidism:

  • Removal of the affected parathyroid gland (gland located behind the thyroid in the neck). Hyperparathyroidism is associated with increased calcium in the blood and urine and an elevated (higher than usual) or normal parathyroid hormone level. Phosphorus levels are low. To determine which parathyroid gland is enlarged, a neck ultrasound or scan may be done.

Monitoring and Treatment for Pheochromocytomas:

  • Annual blood and urine tests to monitor levels of certain hormones made by the adrenal glands. Epinephrine (also called adrenaline) is a stress hormone made by the adrenal glands. Pheochromocytomas are adrenal tumors created from the cells that produce epinephrine. Doctors can detect these tumors based on symptoms and elevated epinephrine-related hormone levels in blood or urine. Annual blood and urine screening allows tumors to be diagnosed earlier and when they are smaller. This may allow only one part of the adrenal gland to be removed instead of all of it.
  • Medication to control blood pressure before surgery and adrenal hormone replacement therapy after surgery.

What Are the Risks Associated with Thyroid or Parathyroid Surgery?

A risk associated with thyroid or parathyroid surgery is related to the presence of an undiagnosed pheochromocytoma. Before surgery, children with MEN2 should be screened and treated for a pheochromocytoma. This can help avoid the risk of malignant hypertension (severe high blood pressure) during surgery. Medications before surgery can help control blood pressure before, during and after surgery.

What Is the Follow-Up Care for Multiple Endocrine Neoplasia Type 2?

Children with MEN2 need follow-up care and screening for the remainder of their lives. They should also be screened every year for pheochromocytoma and hyperparathyroidism.

If your child has a thyroidectomy for MCT, they will need physical exams and tests every 3-6 months initially. Follow-up exams can usually be done yearly.

What Sets MassGeneral Hospital for Children Apart in Treating This Condition?

MGHfC has a very skilled team of pediatric endocrinologists and endocrine surgeons to help take care of children with MEN2 and its associated tumors. We provide multidisciplinary, family-centered and comprehensive care to our patients with MEN2.

How Does This Condition Differ in Children Compared to Adults?

Certain tumors, such as MTC, tend to develop earlier in life. Parathyroid tumors and pheochromocytomas tend to develop later in life.