Multiple endocrine neoplasia

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Multiple endocrine neoplasia



Multiple endocrine neoplasia


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Multiple endocrine neoplasia

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USMLE® Step 1 style questions USMLE

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A 48-year-old woman comes to the clinic complaining of episodic headaches and sweating for the past several months. Several times a week, the patient feels the sudden onset of a diffuse frontal headache associated with heart palpitations and whole-body sweating, lasting for at least twenty minutes. The patient does not drink caffeine or alcohol or use illicit drugs. Medical history includes hypertension, for which she takes nifedipine and carvedilol. The patient’s father was diagnosed with multiple endocrine neoplasia type 2A in adulthood. The patient’s temperature is 37.0°C (98.6°F), pulse is 80/min, respirations are 20/min, and blood pressure is 150/90 mmHg. Physical examination shows a well-appearing female in no apparent distress. Which of the following findings is most likely to be present in this patient?  

External References

First Aid



Multiple endocrine neoplasia p. 339


The multiple endocrine neoplasias, or MEN for short, are a group of inherited diseases which cause tumors to grow in the endocrine glands of the body.

The endocrine glands affected in multiple endocrine neoplasia are the pituitary gland, the thyroid gland, the parathyroid glands, the adrenal glands and the pancreas.

So in multiple endocrine neoplasias there are tumors that form in these glands that lead to overproduction of hormones.

Let’s start by going through the glands that are affected and what they do.

The pituitary gland is a pea-sized gland found at the base of the brain that makes hormones to control many of the other endocrine glands in the body.

These hormones include thyroid stimulating hormone which acts on the thyroid to make thyroid hormone, adrenal corticotropic hormone that acts on the adrenal glands to make cortisol, follicle stimulating hormone and luteinizing hormone which acts on the ovaries and testes to make estrogen in women and testosterone in men.

So it’s like the king of the endocrine glands telling them how much hormone to produce.

The pituitary also makes growth hormone which makes you grow, prolactin which stimulates milk production in women, oxytocin which triggers milk release, antidiuretic hormone which help the kidneys reabsorb water, and melanocyte stimulating hormone helps the melanocytes create more melanin or pigment.

Next, in the neck is the thyroid gland which makes thyroid hormones that control the metabolic rate, as well as calcitonin, a hormone that decreases calcium levels.


Multiple endocrine neoplasias, or MEN for short, are a group of inherited diseases that cause tumors to grow in the endocrine glands of the body. MEN tumors are classified into two broad categories based on their underlying mutations. There is MEN1 caused by a mutation in the MEN1 gene, and MEN2, which is caused by a mutation in the RET gene.

People with MEN1 present with tumors in the pituitary gland or parathyroid glands and pancreatic tumors. MEN2 is further divided into two subtypes: MEN2A and MEN2B. MEN2A is characterized by medullary thyroid cancer, pheochromocytoma, and parathyroid tumors; whereas MEN2B presents with medullary thyroid cancer, pheochromocytoma, and mucosal neuromas.


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  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
  4. "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
  5. "Multiple endocrine neoplasia type 2: An overview" Genetics in Medicine (2011)
  6. "Concepts for screening and diagnostic follow-up in multiple endocrine neoplasia type 1 (MEN1)" Experimental and Clinical Endocrinology & Diabetes (2000)
  7. "Multiple endocrine neoplasia type 2: An overview" Genetics in Medicine (2011)

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