Multiple endocrine neoplasia [MEN] type I Save

Understanding Multiple Endocrine Neoplasia [MEN] Type I

Multiple endocrine neoplasia type I, commonly referred to as MEN I, is a rare genetic disorder that affects the endocrine system. It is characterized by the development of tumors in multiple glands of the endocrine system, including the parathyroid, pituitary, and pancreas.

MEN I is an autosomal dominant disorder, which means that if one parent carries the mutated gene, there is a 50% chance of their children inheriting the condition. The disease is caused by a mutation in the MEN1 gene, which provides instructions for making a protein called menin. This protein acts as a tumor suppressor, preventing the growth of tumors in the endocrine system.

1. Parathyroid Tumors: The most common tumors in MEN I are parathyroid tumors. These tumors cause hyperparathyroidism, which is the excessive production of parathyroid hormone. This results in hypercalcemia, or high levels of calcium in the blood, which can lead to kidney stones, osteoporosis, and other complications.
2. Pituitary Tumors: MEN I can also cause tumors in the pituitary gland, which can result in hormonal imbalances and cause symptoms such as headaches, vision problems, and fatigue.
3. Pancreatic Tumors: Tumors of the pancreas are less common in MEN I, but can still occur. These tumors can cause symptoms such as abdominal pain, diarrhea, and weight loss.

MEN I is typically diagnosed through genetic testing or through imaging studies that reveal the presence of tumors. Treatment for MEN I varies depending on the specific tumors and their severity, but may include surgery, medication, or radiation therapy. Regular monitoring and screening for tumors is also important for individuals with MEN I.

In summary, MEN I is a rare genetic disorder that affects the endocrine system and can cause tumors in multiple glands, including the parathyroid, pituitary, and pancreas. It is caused by a mutation in the MEN1 gene and is typically diagnosed through genetic testing or imaging studies. Treatment varies depending on the specific tumors and may include surgery, medication, or radiation therapy.