Skip to Main Content


Multiple endocrine neoplasia syndrome is defined as a disorder with neoplasms in two or more different hormonal tissues in several members of a family. Several distinct genetic disorders predispose to endocrine gland neoplasia and cause hormone excess syndromes (Table 351-1). DNA-based genetic testing is available for these disorders, but effective management requires an understanding of endocrine neoplasia and the range of clinical features that may be manifested in an individual patient.

Table Graphic Jump Location
Table 351-1 Disease Associations in the Multiple Endocrine Neoplasia (MEN) Syndromes

Multiple Endocrine Neoplasia (MEN) Type 1


MEN 1, or Wermer's syndrome, is inherited as an autosomal dominant trait. This syndrome is characterized by neoplasia of the parathyroid glands, enteropancreatic tumors, anterior pituitary adenomas, and other neuroendocrine tumors with variable penetrance (Table 351-1). Although rare, MEN 1 is the most common multiple endocrine neoplasia syndrome, with an estimated prevalence of 2–20 per 100,000 in the general population. It is caused by inactivating mutations of the tumor-suppressor gene MEN1 located at chromosome 11q13. The MEN1 gene codes for a nuclear protein called Menin. Menin interacts with JunD, suppressing JunD-dependent transcriptional activation. It is unclear how this accounts for Menin growth regulatory activity, since JunD is associated with inhibition of cell growth. Each child born to an affected parent has a 50% probability of inheriting the gene. The variable penetrance of the several neoplastic components can make the differential diagnosis and treatment challenging.


Clinical Manifestations


Primary hyperparathyroidism is the most common manifestation of MEN 1, with an estimated penetrance of 95–100%. Hypercalcemia may develop during the teenage years, and most individuals are affected by age 40 (Fig. 351-1). Hyperparathyroidism is the earliest manifestation of the syndrome in most MEN 1 patients. The neoplastic changes in hyperparathyroidism provide a specific example of one of the cardinal features of endocrine tumors in MEN 1: multicentricity. The neoplastic changes inevitably affect multiple parathyroid glands, making surgical cure difficult. Screening for hyperparathyroidism involves measurement of either an albumin-adjusted ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessMedicine Full Site: One-Year Subscription

Connect to the full suite of AccessMedicine content and resources including more than 250 examination and procedural videos, patient safety modules, an extensive drug database, Q&A, Case Files, and more.

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessMedicine

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.