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HOME > Endocrinol Metab > Volume 25(4); 2010 > Article
Case Report 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
Endocrinology and Metabolism 2010;25(4):374-377
DOI: https://doi.org/10.3803/EnM.2010.25.4.374
Published online: December 1, 2010
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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.
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Abstract

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).

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