American Journal of Perinatology Reports (Sep 2011)

Sonographic Findings of Medullary Thyroid Carcinoma Leading to Diagnosis of Multiple Endocrine Neoplasia Type 2a during Pregnancy

  • David M. Sherer,
  • Mudar Dalloul,
  • Ghadir Salame,
  • Tana Shah,
  • Eli Serur,
  • Harry L. Zinn,
  • Ovadia Abulafia

DOI
https://doi.org/10.1055/s-0031-1280572
Journal volume & issue
Vol. 01, no. 01
pp. 059 – 064

Abstract

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Multiple endocrine neoplasia (MEN) type 2a (Sipple's syndrome) is characterized by medullary thyroid carcinoma and pheochromocytoma, and in a smaller percentage of cases, multiglandular parathyroid hyperplasia. This autosomal-dominant syndrome is due to a mutation in the rearranged during transfection (RET) proto-oncogene located on chromosome 10cen–10q11.2 and rarely complicates pregnancy. We present an unusual case in a patient with an enlarged thyroid with sonographic findings characteristic of thyroid cancer, which led to diagnosis and subsequent management of RET proto-oncogene-positive MEN type 2a complicating pregnancy.

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