How do you diagnose multiple endocrine neoplasia syndromes?
Classical diagnosis of MEN is based on clinical features and on testing for elevated hormone levels. For MEN1, the relevant hormone is parathyroid hormone. For both types of MEN2, the greatest concern is development of medullary thyroid cancer. MTC can be detected by measuring levels of the thyroid hormone, calcitonin. Numerous other hormone levels can be measured to assess the involvement of the various other endocrine glands. Diagnosis of MEN2B can be made by physical examination alone. However, MEN2A shows no distinct physical features and must be identified by measuring hormone levels or by finding endocrine tumors. Since 1994, genetic screening using DNA technology has been available for both MEN1 and MEN2. This new methodology allows diagnosis prior to the onset of symptoms. In the past, there was no way of definitively identifying which children had inherited the defective gene. As a result, all children had to be considered at risk. In the case of MEN2A and MEN2B, children woul
