Multiple endocrine neoplasia

Keywords: MEN

Key Information

Appropriate Tests

Multiple endocrine neoplasia (MEN) syndromes are inherited as autosomal dominant disorders.

Medullary carcinoma of the thyroid may occur as an autosomal dominant in the absence of other features.

 

MEN type 1

 

Parathyroid hyperplasia/tumour;

See under Hyperparathyroidism.

Islet cell tumour

See Hypoglycaemia (insulinoma), Zollinger-Ellison syndrome.

Pituitary adenoma

See Pituitary hormone excess.

MEN type 2A

Molecular genetics - individual genetic disorders provides the most reliable diagnostic test for asymptomatic patients. See Multiple endocrine neoplasia type 2 (MEN2) testing.

The mutation is in the RET oncogene.

Medullary carcinoma of thyroid

Calcitonin.

Phaeochromocytoma

 

Parathyroid hyperplasia/tumour

See under Hyperparathyroidism.

MEN type 2B

Molecular genetics - individual genetic disorders provides the most reliable diagnostic test for asymptomatic patients. See Multiple endocrine neoplasia type 2 (MEN2) testing.

The mutation is in the RET oncogene.

Phaeochromocytoma

 

Medullary carcinoma of thyroid

Calcitonin. The test should be done after pentagastrin injection and calcium infusion, to ensure all patients are detected.

Mucosal neuromas

Usually gastrointestinal.

Marfanoid habitus