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[Multiple endocrine neoplasia type 1. Digestive hormones in the screening]
A Carreau1, C Badet, M Laville
1Service d'Endocrinologie, Diabétologie et Nutrition, Hôpital Edouard Herriot, Lyon.
Presse Medicale (Paris, France : 1983)
|November 20, 1993
Summary
Genetic testing alone cannot identify all individuals with multiple endocrine neoplasia type 1. Measuring plasma insulin and using abdominal ultrasonography are crucial for early detection in at-risk family members.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple endocrine neoplasia type 1 (MEN1) is a genetic disorder.
- Genetic analysis alone is insufficient for diagnosing MEN1.
- Early detection of MEN1 is vital for patient management.
Purpose of the Study:
- To evaluate diagnostic methods for MEN1 within a family.
- To identify affected individuals using clinical, biochemical, and radiological data.
- To assess the utility of specific biomarkers and imaging techniques.
Main Methods:
- Clinical evaluation of 14 family members.
- Biochemical analysis including plasma insulin and glucagon levels.
- Radiological assessment using abdominal ultrasonography.
Main Results:
- Six out of 14 subjects were identified as affected by MEN1.
- One confirmed and three probable cases of pancreatic endocrine tumors were detected.
- Gastrointestinal hormone levels remained normal in all tested subjects.
Conclusions:
- Clinical, biochemical (plasma insulin), and radiological (ultrasonography) data are essential for MEN1 detection.
- Genome study is not sufficient for identifying all affected individuals.
- Abdominal ultrasonography and insulin level measurement are recommended for at-risk subjects.