Multiple endocrine neoplasia type 2

February 3, 2023

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Multiple endocrine neoplasia type 2 (MEN2) is a rare, inherited condition that affects the endocrine system, which is the group of glands that produce hormones in the body. MEN2 is caused by mutations in the RET gene, which provides instructions for making a protein that regulates cell growth and division.

There are three subtypes of MEN2: MEN2A, MEN2B, and medullary thyroid carcinoma (MTC) only. The subtypes have different patterns of inheritance and different symptoms, but all three involve an increased risk of developing tumors in the endocrine glands, particularly in the thyroid gland and the adrenal glands. The tumors in the thyroid gland can produce excessive hormones, leading to symptoms such as heart palpitations, sweating, and weight loss. The tumors in the adrenal glands can cause the adrenal glands to produce too much or too little of certain hormones, leading to symptoms such as high blood pressure, weakness, and fatigue.

The diagnosis of MEN2 is usually made through a combination of genetic testing, medical history, and physical exam, as well as through imaging tests and other diagnostic tests. Management of MEN2 may include regular monitoring for tumors, surgery to remove affected glands, and medications to manage symptoms. Early diagnosis and management are important to prevent or minimize the effects of the condition and to reduce the risk of long-term complications, such as heart disease, stroke, and damage to the eyes, nerves, and kidneys.

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