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Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts
Nobuyuki Koyama1, Terumasa Nagase2, Masahiko Kure2,3
1Department of Respiratory Medicine, Saitama Medical Center, Saitama Medical University, Japan.
Internal Medicine (Tokyo, Japan)
|October 14, 2021
Summary
This case highlights the varied presentation of Multiple Endocrine Neoplasia type 1 (MEN1), a genetic disorder. A patient with hypercalcemia was diagnosed with MEN1 due to multiple endocrine tumors and a specific gene mutation.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic disorder characterized by tumors in endocrine glands.
- Early diagnosis and management are crucial for improving patient outcomes.
Observation:
- A 51-year-old woman presented with hypercalcemia, leading to the discovery of parathyroid cysts.
- Further investigations revealed a non-functioning pancreatic neuroendocrine tumor, prolactinoma, and adrenal tumors with subclinical Cushing's syndrome.
Findings:
- Technetium-99m-methoxyisobutylisonitrile scintigraphy confirmed primary hyperparathyroidism, successfully treated with parathyroidectomy and autotransplantation.
- Germline DNA sequencing identified a missense mutation (c.1013T>C, p.Leu338Pro) in the MEN1 gene, confirming the diagnosis of MEN1.
Implications:
- This case underscores the significant phenotypic and genetic heterogeneity of MEN1.
- Recognizing diverse clinical manifestations is essential for timely diagnosis and genetic testing in suspected MEN1 cases.
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