Parathyroid tumor-related genes

MEN1 (Multiple Endocrine Neoplasia Type 1) is a genetic disease that is known as multiple endocrine neoplasia type 1 , and is a disease that makes people more likely to develop tumors in the endocrine glands. This disease is caused by a mutation in the MEN1 gene . The MEN1 gene is a tumor suppressor gene that normally plays a role in suppressing the development of tumors, but if there is a mutation in this gene, people are more likely to develop tumors in the endocrine glands.

Characteristics of MEN1

MEN1 is a disease that causes tumors to form in multiple glands of the endocrine system , primarily affecting the following glands:

1. Parathyroid gland :

• Hyperparathyroidism is the most common symptom, occurring in approximately 90% of patients.
• Tumors form in the parathyroid glands, causing hypercalcemia .
• This condition leads to decreased bone density and increased risk of kidney stones.

1. pancreas :

• Pancreatic endocrine tumors (insulinoma, gastrinoma, etc.) may develop, resulting in excessive secretion of hormones such as insulin and gastrin.
• This can lead to hypoglycemia and ulcers .

1. Pituitary gland :

• Pituitary tumors may develop and produce too much of hormones, such as prolactin or growth hormone.
• Prolactinomas (prolactin-secreting tumors) are common, and may cause menstrual irregularities and galactorrhea.
• Excessive secretion of growth hormone can result in acromegaly or gigantism .

Causes of MEN1 syndrome

• It is caused by a mutation in the MEN1 gene . MEN1 is an autosomal dominant condition that can be inherited from a parent or can occur de novo.
• The MEN1 gene is a tumor suppressor gene that controls cell growth and division. When this gene is mutated, cells lose control and are more likely to develop tumors.

Diagnosis of MEN1 syndrome

MEN1 is diagnosed in the following ways:

• Blood tests to check for hypercalcemia and excess hormone production (such as prolactin and insulin).
• Imaging tests : Imaging tests such as CT or MRI are used to confirm the presence of a tumor.
• Genetic testing : Genetic testing may be done to check for mutations in the MEN1 gene.

Treatment of MEN1 syndrome

Treatment of MEN1 depends on which tumors and excessive hormone production have developed.

1. Surgery :

• If the tumor in the parathyroid gland, pancreas, or pituitary gland becomes large or if symptoms are significant, surgery is required. In the case of a parathyroid tumor, the parathyroid gland is removed.

1. Drug therapy :

• Excessive hormone secretion can be treated with drugs, such as blood sugar control drugs for insulinomas and dopamine agonists (such as cabergoline) for prolactinomas.

1. Regular monitoring :

• Because MEN1 is a progressive disease and multiple tumors develop over time, regular blood tests and imaging are recommended.

summary

MEN1 is a genetic disease in which multiple tumors develop in the endocrine glands . Tumors develop in the parathyroid gland, pancreas, and pituitary gland, causing various symptoms due to abnormal hormone secretion. It is caused by a mutation in the MEN1 gene, and requires hormone and genetic testing for diagnosis. Treatment involves managing the tumors through surgery and drug therapy.