Endocrinology and Metabolism

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; Endocrinol Metab. 2010;25(4):374-377. Published online December 1, 2010; DOI: https://doi.org/10.3803/EnM.2010.25.4.374

Abstract PDF: 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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