Multiple endocrine neoplasia

Last updated: Tuesday, 21, December, 2010
Key InformationAppropriate Tests

Multiple endocrine neoplasia 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