American Association of Endocrine SurgeonsThe variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1☆,☆☆
Section snippets
Patient population
From 1993 to 1998, under a clinical research protocol approved by our Institutional Review Board, the authors prospectively evaluated 18 patients considered to have MEN1 or to be at risk for the disorder. Evaluations were conducted in a multidisciplinary forum by coinvestigators in endocrinology, endocrine surgery, human genetics, and associated disciplines and included in-depth medical history, examination, review of pertinent records and surgical and autopsy tissues, and family history with
Diagnosis of MEN1
With use of the above definitions, clear evidence for diagnosis of MEN1 was identified in 34 patients from 25 families. Of these patients, 19 were female and one was African American; 17 were index patients and 17 were first-degree relatives. Prospective evaluation of these patients and families identified a total of 61 pedigree members with MEN1, and another 85 first-degree relatives await further evaluation for MEN1, but to clarify as much as possible the demographic conclusions presented
Discussion
This prospective study has helped to define the variable penetrance and spectrum of manifestations of MEN1 at a large eastern metropolitan medical center. The mean age at diagnosis in this study was 40.7 years, a figure that probably typifies the high proportion of index patients in this study whose MEN1 diagnosis followed the development of clinical symptoms. When MEN1 is diagnosed in screened asymptomatic patients, mean age drops significantly to 24.8 years.4 Demographic characterization
Acknowledgements
We thank Lisa Streb, RN, Mona Penles Stadler, MS, and Douglas Weidner for their expert help in coordinating and facilitating this research. We also thank the staff and nurses of the General Clinical Research Center and the many patients and family members who generously gave their time and interest to this project.
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Supported in part by NIH/NCRR/GCRC grant No. 5M01RR00056 and the Carrie L. Hughes Endocrine Genetics Research Fund.
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Reprint requests: Sally E. Carty, MD, FACS, 497 Scaife Hall, Department of Surgery, University of Pittsburgh, PA 15261.