MEN syndrome

Multiple Endocrine Neoplasia (MEN) syndrome refers to a group of rare, inherited disorders that affect the endocrine glands, leading to the development of tumors in these glands. These tumors can be benign or malignant and can cause the glands to produce excess hormones, leading to various health issues.

Types of MEN Syndrome

There are two primary types of MEN syndrome, each associated with different genetic mutations and clinical features:

MEN Type 1 (MEN1)

MEN1 is caused by mutations in the MEN1 gene, which encodes the protein menin. This type is characterized by tumors in the parathyroid glands, pancreas, and pituitary gland. Common manifestations include:

• Hyperparathyroidism: Overactivity of the parathyroid glands leading to elevated calcium levels.
• Gastrinoma: Tumors in the pancreas that secrete excessive gastrin.
• Prolactinoma: Pituitary tumors that produce prolactin.

MEN Type 2 (MEN2)

MEN2 is associated with mutations in the RET proto-oncogene. It is further divided into two subtypes:

• MEN2A: Characterized by medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.
• MEN2B: Includes medullary thyroid carcinoma, pheochromocytoma, and additional features such as mucosal neuromas and a marfanoid habitus.

Diagnosis

Diagnosis of MEN syndrome typically involves a combination of genetic testing, biochemical tests, and imaging studies. Genetic testing can identify mutations in the MEN1 or RET genes, confirming the diagnosis.

Management

Management of MEN syndrome involves regular monitoring and treatment of the endocrine tumors. This may include:

• Surgical removal of tumors.
• Medications to control hormone levels.
• Regular screening for early detection of new tumors.

Related Pages

• Endocrine gland
• Genetic mutation
• Hyperparathyroidism
• Medullary thyroid carcinoma
• Pheochromocytoma
• Pituitary gland
• RET proto-oncogene

Categories

This endocrine system related article is a stub.