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- Nobuyuki Koyama, Terumasa Nagase, Masahiko Kure, Tomotada Odaka, Koichiro Kogure, Yukihisa Takeda, Tomoya Ishii, Kenichiro Narisawa, Tomoyuki Fujita, Minoru Fujimori, and Yoshiya Katsura.
- Department of Respiratory Medicine, Saitama Medical Center, Saitama Medical University, Japan.
- Intern. Med. 2022 Apr 15; 61 (8): 1183-1188.
AbstractA 51-year-old woman was admitted because of hypercalcemia. Neck ultrasonography and computed tomography revealed the presence of parathyroid cysts on both sides. After primary hyperparathyroidism was diagnosed by technetium-99m-methoxyisobutylisonitrile scintigraphy, the patient was successfully treated with total parathyroidectomy and autotransplantation. She also had a non-functioning pancreatic neuroendocrine tumor, prolactinoma, and adrenal tumors with subclinical Cushing's syndrome. Given these clinical features and her family history, multiple endocrine neoplasia type 1 (MEN1) was suspected, and germline DNA sequencing revealed a missense mutation (c.1013T>C, [corrected] p.Leu338Pro) in exon 7 of MEN1. This case demonstrates the phenotypic and genetic diversity of MEN1.
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