Familial Endocrine Adenomatosis, also known as Multiple Endocrine Neoplasia (MEN), is a rare genetic disorder characterized by the development of tumorous growths or adenomas in multiple endocrine glands of the body. This hereditary condition affects hormone-producing glands, including the parathyroid, pituitary, and adrenal glands.
The disorder is generally divided into three types, MEN1, MEN2A, and MEN2B, each with specific features and affected endocrine glands. MEN1 mainly involves the parathyroid glands, resulting in excessive production of parathyroid hormone (PTH) and causing symptoms such as hypercalcemia and kidney stones. Additionally, MEN1 may affect the pancreas leading to the development of tumors called gastrinomas, insulinomas, or glucagonomas.
MEN2A and MEN2B are usually associated with the thyroid and adrenal glands. In MEN2A, individuals have an increased risk of developing medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas or hyperplasia. MEN2B, on the other hand, presents with a more aggressive form of MTC and also includes the development of pheochromocytoma and neuromas.
Familial Endocrine Adenomatosis is caused by mutations in specific genes, such as MEN1, RET, or other related genes. These genetic mutations result in the unrestrained growth of endocrine tissues and the formation of tumors. The disorder is usually inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their offspring.
Early diagnosis and comprehensive management are crucial in Familial Endocrine Adenomatosis to prevent or treat
