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How Is Multiple Endocrine Neoplasia Diagnosed?

Multiple endocrine neoplasia is an autosomal recessive disorder of the endocrine system. It causes the formation of tumors in the endocrine glands. It involves parathyroid gland, pituitary gland, thyroid gland, adrenal gland, and pancreas. It can involve one or more endocrine glands. It causes overactivity of the glands. It is caused by genetic mutations transferred from parents to their children. Its symptoms include anxiety, nausea, vomiting, flatulence, diarrhea, muscular pain, weight loss, and many more. It can be diagnosed by physical examination, blood tests, genetic testing, CT scan, and other tests. It cannot be cured but its symptoms can be managed with treatment options available.

How Is Multiple Endocrine Neoplasia Diagnosed?

The physician investigates medical family history of the patient to look for multiple endocrine neoplasia syndromes. He will check whether the patient is having one endocrine tumor or more with a family history of this syndrome before the symptoms appear. However, family history is not the criteria of the syndrome as the patient may be first in the family to have such genetic mutations. Genetic testing can be used to confirm the diagnosis as specific genes that cause this syndrome can be identified through this test.(1)

The tests that confirm the diagnosis of multiple endocrine neoplasia syndrome are-

Physical Examination- the physician will perform a physical examination of the patient. It is helpful to know raised body temperature in fever, the rise in blood pressure, rapid heart rate, thyroid nodules and enlarged lymph nodes in the neck.

Blood Tests- the main reason to have a blood test is to know that endocrine glands are functioning properly or not. It reveals the levels of calcitonin, calcium, phosphorus, alkaline phosphatase, parathyroid hormone and other hormones in the blood.

Urine Test- it reveals the levels of catecholamines and metanephrine in the urine.

Imaging Tests- the imaging tests are done to identify and find out the location of the tumors. These tests involve MRI scan, CT scan, imaging tests of kidneys, thyroid scan, ultrasound of thyroid, and MIBG scintiscan.

Genetic Tests- these tests are done to identify the genetic abnormality in this syndrome. It is performed in cases where one incidence of this syndrome is detected in the family to look out for other cases in the family members. Genetic screening is also done in pregnancy before the birth of the infant to rule out its presence in cases where medical history is present.

Other Tests- other tests involve thyroid biopsy, adrenal biopsy, electrocardiogram, and parathyroid biopsy.(2)

Multiple endocrine neoplasia syndrome or MEN refers to a group of inherited disorders that leads to the development of tumors in more than one tumor in endocrine glands at a time. It can involve major endocrine glands like pituitary, thyroid, parathyroid, adrenal, and pancreas. The tumors developed can be benign or malignant. Benign tumors are slow-growing tumors that are located in a single part of the body and do not spread to other parts. It is not always a life-threatening condition. Malignant tumors are rapidly growing tumors that spread to other parts. If malignant tumors are not managed properly, it can be fatal.

Multiple endocrine neoplasia is a genetic disorder that passes on in families. 50 % of children born in families with a history of multiple endocrine neoplasia syndromes will develop such a disorder.

Multiple endocrine neoplasia syndromes are induced by mutations in the genes transferred from parents to their children. The mutation in certain genes is the most common cause of this disorder. These defective genes are MEN1, RET, and CDKN1B genes. These genes carry information for functioning growth, and multiplication of endocrine glands.


Multiple endocrine neoplasia syndromes are a group of a rare genetic disorder of endocrine glands. It can be diagnosed by physical examination, blood tests, urine tests, imaging tests, genetic tests and other tests like adrenal biopsy, electrocardiogram, others mentioned above.


Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:April 15, 2022

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