Endocrinol Metab > Volume 25(4); 2010 > Article
Endocrinology and Metabolism 2010;25(4):374-377.
DOI: https://doi.org/10.3803/EnM.2010.25.4.374    Published online December 1, 2010.
A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation.
Sung Woo Kim, Seung Jun Lee, Hyun Suk Kim, Ji Youn Kim, Eui Dal Jung, Duk Su Jung
1Department of Internal Medicine, Daegu Catholic University School of Medicine, Daegu, Korea. jed15@cu.ac.kr
2Department of Nuclear Medicine, Daegu Catholic University School of Medicine, Daegu, Korea.
Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder that is characterized by an early stage of either multiple endocrine neoplasia type 1 (MEN1) or hyperparathyroidism-jaw tumor (HPT-JT) syndrome. We report here on a case of a 42-years old woman who was diagnosed with papillary thyroid cancer and primary hyperparathyroidism. Her younger brother also had primary hyperparathyroidism. On the genetic analysis, they were both proven to have a novel frameshift mutation in the MEN1 gene (exon 10).
Key Words: Hyperparathyroidism-jaw tumor syndrome, MEN1, Primary hyperparathyroidism

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