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

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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.

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Acknowledgments

The authors are indebted to family members who generously gave their time and information. Dr. Leon Raskin, research fellow at the University of Michigan, provided technical assistance in genotyping. Dr. Gary Talpos, endocrine surgeon at Henry Ford Hospital in Detroit, MI, generously shared information about the family. The historical reviews of hyperparathyroidism by Dr. Norman Thompson [Acta Chir Scand 1990;156(1):5–21] and Dr. Claude H. Organ, Jr. [J Am Coll Surg 2000;191(3):284–299] enabled perspective and insight into the disorder.

The Institutional Review Board of the University of Michigan approved this investigation (UMCC 2-79).

No potential conflicts of interest relevant to this article were reported.

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Authors and Affiliations

  1. Department of Radiology, Division of Nuclear Medicine, University of Michigan Health System, UH B1 G505D, Ann Arbor, MI, 48109-0028, USA

    James C. Sisson

  2. Department of Pathology, University of Michigan Health System, 2g332 Agh, SPC 5054, Ann Arbor, MI, 48109, USA

    Thomas J. Giordano

  3. Department of Surgery, Division of Endocrine Surgery, University of Michigan Health System, 2920 Taubman Center, SPC 5331, Ann Arbor, MI, 48109, USA

    Gerard M. Doherty

  4. Department of Internal Medicine, Division of Human Genetics, University of Michigan Health System, NI3A08 300 NIB, SPC 5419, Ann Arbor, MI, 48109, USA

    Victoria M. Raymond

  5. Department of Internal Medicine, Division of Human Genetics, University of Michigan Health System, 1424 BSRB 2200, Ann Arbor, MI, 48109, USA

    Stephen B. Gruber

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  1. James C. Sisson
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  2. Thomas J. Giordano
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  3. Victoria M. Raymond
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  4. Gerard M. Doherty
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  5. Stephen B. Gruber
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Correspondence to James C. Sisson.

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Sisson, J.C., Giordano, T.J., Raymond, V.M. et al. First Description of Parathyroid Disease in Multiple Endocrine Neoplasia 2A Syndrome. Endocr Pathol 19, 289–293 (2008). https://doi.org/10.1007/s12022-008-9049-8

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  • DOI: https://doi.org/10.1007/s12022-008-9049-8

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