First Description of Parathyroid Disease in Multiple Endocrine Neoplasia 2A Syndrome
- PDF / 213,383 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 50 Downloads / 172 Views
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
Published online: 25 November 2008 # Humana Press Inc. 2008
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, J. C. Sisson (*) Department of Radiology, Division of Nuclear Medicine, University of Michigan Health System, UH B1 G505D, Ann Arbor, MI 48109-0028, USA e-mail: [email protected] T. J. Giordano Department of Pathology, University of Michigan Health System, 2g332 Agh, SPC 5054, Ann Arbor, MI 48109, USA e-mail: [email protected] G. M. Doherty Department of Surgery, Division of Endocrine Surgery, University of Michigan Health System, 2920 Taubman Center, SPC 5331, Ann Arbor, MI 48109, USA e-mail: [email protected] V. M. Raymond Department of Internal Medicine, Division of Human Genetics, University of Michigan Health System, NI3A08 300 NIB, SPC 5419, Ann Arbor, MI 48109, USA e-mail: [email protected] S. B. Gruber Department of Internal Medicine, Division of Human Genetics, University of Michigan Health System, 1424 BSRB 2200, Ann Arbor, MI 48109, USA e-mail: [email protected]
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 indepth family histories and genetic analyses are exemplified. Keywords hyperparathyroidism . parathyroid hyperplasia . multiple endocrine neoplasia 2A . historical report Perceptions of disease may be expanded by examining the first description of a disorder. Neumann et al. discovered, after historical and genetic analyses, that the first reported pheochromocytoma was in a patient with multiple endocrine neoplasia type 2A (MEN 2A) [1]. Hyperparathyroidism, another recognized component of MEN 2A, usually presents less dramatically and less frequently than either medullary thyroid carcinoma (MTC) or pheochromocytoma. Yet, the parathyroid abnormalities in the syndrome also warrant a historical purview. The excision of a parathyroid tumor from an 18-year-old woman with osteitis fibrosa cystica in 1936 [2] was the basis for what appears to be the first portrayal of hyperparathyroidism in MEN 2A. Over time, recognition of probable MTC in this patient and the manifesta
Data Loading...