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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Multiple endocrine neoplasia type 1


Other Names for this Disease

  • Endocrine adenomatosis multiple
  • MEN 1
  • Wermer syndrome
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Tests & Diagnosis

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Is genetic testing available for multiple endocrine neoplasia, type 1?

Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1).[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 12/4/2014

How is multiple endocrine neoplasia, type 1 diagnosed?

A diagnosis of multiple endocrine neoplasia, type 1 (MEN1) is based on the presence of two of the following endocrine tumors: parathyroid tumors; pituitary tumors; and/or stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors. People with only one of the tumors may also receive a diagnosis of MEN1 if they have other family members with the condition. Identification of a change (mutation) in the MEN1 gene can be used to confirm the diagnosis.[1][2]

In addition to a complete physical exam and medical history, laboratory tests that evaluate the levels of certain hormones in the blood or urine are often used detect the different types of tumors found in MEN1. Imaging studies such as computed tomography (CT scan), magnetic resonance imaging (MRI scan), and/or endoscopic ultrasound may be recommended to confirm the location and size of the tumors. Some people may also need a biopsy of the tumor to confirm the diagnosis.[1][2]
Last updated: 12/4/2014

References
  1. Pagon RA, Adam MP, Ardinger HH, et al. Multiple Endocrine Neoplasia Type 1. GeneReviews. September 2012; http://www.ncbi.nlm.nih.gov/books/NBK1538/?report=printable.
  2. Multiple Endocrine Neoplasia, Type 1. NORD. May 2012; http://rarediseases.org/rare-disease-information/rare-diseases/byID/1229/viewFullReport.


Other Names for this Disease
  • Endocrine adenomatosis multiple
  • MEN 1
  • Wermer syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.