Wermer syndrome

Wermer syndrome, also known as Multiple Endocrine Neoplasia type 1 (MEN1), is a rare hereditary disorder that affects the endocrine glands. It is characterized by the development of tumors in multiple endocrine glands, which can lead to overproduction of hormones.

Etiology

Wermer syndrome is caused by mutations in the MEN1 gene, which is a tumor suppressor gene located on chromosome 11. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene can cause the disorder.

Clinical Features

The primary endocrine glands affected in Wermer syndrome include the parathyroid glands, the pancreas, and the pituitary gland. Common clinical manifestations include:

• Hyperparathyroidism: This is the most common feature and leads to hypercalcemia.
• Gastrinoma: Tumors in the pancreas that secrete excessive amounts of gastrin, leading to Zollinger-Ellison syndrome.
• Prolactinoma: Tumors in the pituitary gland that secrete excessive amounts of prolactin.

Other less common features may include adrenal adenomas, carcinoid tumors, and lipomas.

Diagnosis

Diagnosis of Wermer syndrome is based on clinical criteria, family history, and genetic testing. Imaging studies such as MRI and CT scan may be used to identify tumors in the endocrine glands.

Management

Management of Wermer syndrome involves regular monitoring and treatment of hormone levels, surgical removal of tumors, and genetic counseling. Medications may be used to control hormone overproduction.

Prognosis

The prognosis for individuals with Wermer syndrome varies depending on the type and extent of tumors present. Early detection and treatment are crucial for improving outcomes.

Related Pages

• Multiple Endocrine Neoplasia
• Hyperparathyroidism
• Zollinger-Ellison syndrome
• Prolactinoma
• Endocrine system

See Also

• Endocrinology
• Genetic disorders
• Tumor suppressor genes