Monday, April 20, 2009

No Country for Old ________........

(Does this man have acromegaly?)

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.

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