Hyperparathyroidism-jaw Tumor Syndrome Confirmed by Preoperative Genetic Testing
-
- Koikawa Kenji
- First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
-
- Okada Yosuke
- First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
-
- Mori Hiroko
- First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
-
- Kawaguchi Mayuko
- First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
-
- Uchino Shinya
- Noguchi Thyroid Clinic and Hospital Foundation, Japan
-
- Tanaka Yoshiya
- First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
この論文をさがす
抄録
<p>We herein report the case of a young woman who was diagnosed with primary hyperparathyroidism and in whom genetic testing confirmed a diagnosis of hyperparathyroidism-jaw tumor syndrome. Familial hyperparathyroidism was suspected based on the patient's young age at the onset of the disease. Thus, genetic testing was performed. It showed a germline mutation in the HRPT2/CDC73 gene and confirmed the diagnosis of hyperparathyroidism-jaw tumor syndrome. Total parathyroidectomy was performed to prevent recurrence. In patients with early-onset hyperparathyroidism, genetic testing should be considered to facilitate the selection of a proper surgical procedure based on the consideration of future life expectancy. </p>
収録刊行物
-
- Internal Medicine
-
Internal Medicine 57 (6), 841-844, 2018
一般社団法人 日本内科学会
