Multiple Endocrine Neoplasia Type I (MEN1) is a rare inherited syndrome characterized by the development of tumors in multiple hormone-producing glands of the endocrine system. It is caused by a genetic mutation that results in the production of non-functioning or dysfunctional proteins, leading to uncontrolled cell growth and the formation of tumors.
MEN1 primarily affects three main endocrine glands: the parathyroid glands, the pancreas, and the pituitary gland. The parathyroid tumors cause hyperparathyroidism, leading to the overproduction of parathyroid hormone and subsequent abnormally high levels of calcium in the blood. Pancreatic tumors, known as islet cell tumors or gastrinomas, produce excessive amounts of hormones such as gastrin, leading to gastrinoma syndrome characterized by peptic ulcers and diarrhea. Pituitary tumors, also known as pituitary adenomas, may cause hormonal imbalances resulting in growth hormone excess, prolactin overproduction, or adrenocorticotropic hormone secretion.
In addition to these primary sites, other endocrine glands and organs may also be affected, including the adrenal glands, thyroid, and thymus. As MEN1 is inherited in an autosomal dominant pattern, offspring of an affected individual have a 50% chance of inheriting the mutation.
Diagnosis of MEN1 involves clinical evaluation, hormone level measurements, genetic testing, and imaging studies to identify and locate the tumors. Treatment for MEN1 aims to manage the symptoms and prevent complications associated with hormone overproduction, which may include surgical removal of tumors, medications to control hormone secretion, and regular monitoring through imaging and hormone level tests.
Overall, MEN1 is a complex disorder that necessitates comprehensive medical care and long-term monitoring to achieve optimal management
