A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation.
10.3803/EnM.2010.25.4.374
- Author:
Sung Woo KIM
1
;
Seung Jun LEE
;
Hyun Suk KIM
;
Ji Youn KIM
;
Eui Dal JUNG
;
Duk Su JUNG
Author Information
1. Department of Internal Medicine, Daegu Catholic University School of Medicine, Daegu, Korea. jed15@cu.ac.kr
- Publication Type:Case Report
- Keywords:
Hyperparathyroidism-jaw tumor syndrome;
MEN1;
Primary hyperparathyroidism
- MeSH:
Female;
Frameshift Mutation;
Humans;
Hyperparathyroidism, Primary;
Multiple Endocrine Neoplasia Type 1;
Siblings;
Thyroid Neoplasms
- From:Endocrinology and Metabolism
2010;25(4):374-377
- CountryRepublic of Korea
- Language:Korean
-
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).
