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KMID : 0356620100250040374
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Journal of Korean Society of Endocrinology
2010 Volume.25 No. 4 p.374 ~ p.377
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A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation
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Kim Sung-Woo
Lee Seung-Jun
Kim Hyun-Sook
Kim Ji-Youn
Jung Eui-Dal
Jung Duk-Su
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Abstract
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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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KEYWORD
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Hyperparathyroidism-jaw tumor syndrome, MEN1, Primary hyperparathyroidism
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