Endocrine Pathology

, Volume 19, Issue 4, pp 289–293

First Description of Parathyroid Disease in Multiple Endocrine Neoplasia 2A Syndrome

  • James C. Sisson
  • Thomas J. Giordano
  • Victoria M. Raymond
  • Gerard M. Doherty
  • Stephen B. Gruber
Article

DOI: 10.1007/s12022-008-9049-8

Cite this article as:
Sisson, J.C., Giordano, T.J., Raymond, V.M. et al. Endocr Pathol (2008) 19: 289. doi:10.1007/s12022-008-9049-8

Abstract

Hyperparathyroidism and/or parathyroid hyperplasia, medullary thyroid carcinoma (MTC), and pheochromocytomas compose the hallmarks of the multiple endocrine neoplasia type 2A (MEN 2A) syndrome. Revisiting a report in 1939 of a patient with hyperparathyroidism and parathyroid hyperplasia led to a search for evidence of MEN 2A. From medical records and discussion with family members, longitudinal follow-up of the patient and her descendants was obtained. Molecular diagnostics were integrated in the care of subsequent generations. The literature on hyperparathyroidism and MEN 2A was reviewed. Children of the proband exhibited all components of MEN 2A and the RET mutation of 634 TGC>CGC. The pedigree was typical for this mutation. Papers on anthropologic studies demonstrate skeletal evidence of hyperparathyroidism in humans centuries ago. The initial report of the proband preceded the publications defining both MTC and MEN 2A. The values of in-depth family histories and genetic analyses are exemplified.

Keywords

hyperparathyroidismparathyroid hyperplasiamultiple endocrine neoplasia 2Ahistorical report

Copyright information

© Humana Press Inc. 2008

Authors and Affiliations

  • James C. Sisson
    • 1
  • Thomas J. Giordano
    • 2
  • Victoria M. Raymond
    • 4
  • Gerard M. Doherty
    • 3
  • Stephen B. Gruber
    • 5
  1. 1.Department of Radiology, Division of Nuclear MedicineUniversity of Michigan Health SystemAnn ArborUSA
  2. 2.Department of PathologyUniversity of Michigan Health SystemAnn ArborUSA
  3. 3.Department of Surgery, Division of Endocrine SurgeryUniversity of Michigan Health SystemAnn ArborUSA
  4. 4.Department of Internal Medicine, Division of Human GeneticsUniversity of Michigan Health SystemAnn ArborUSA
  5. 5.Department of Internal Medicine, Division of Human GeneticsUniversity of Michigan Health SystemAnn ArborUSA