Multiple Endocrine Neoplasia (MEN) syndromes can often be a bit confusing. It should be considered in those with....uhhhh....endocrine neoplasia - at multiple sites.
MEN 1: An autosomal dominant disease with mutations in the MENIN gene.
Remember "the 3 P's":
- Pituitary tumors: particularly the anterior pituitary.
- Pancreas: islet cell tumors like Insulinomas, Glucagonomas, and VIPomas.
- Parathyroid hyperplasia, usually in all glands.
MEN 2: Also an autosomal dominant disease. The mutation is in the RET proto-onco gene.
- MEN 2A: aka Sipple Syndrome
- Medullary thyroid cancer; typically bilateral. In non-MEN disease this is mostly unilateral.
- Pheochromocytoma in about 50%. Also can be bilateral.
- Parathyroid hyperplasia
- Men 2B
- Medullary thyroid cancer: as above.
- Parathyroid hyperplasia: as above.
- Marfanoid habitus: high arched palate, pectus excivatum.