Endocrinol Metab.  2010 Dec;25(4):374-377. 10.3803/EnM.2010.25.4.374.

A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation

Affiliations
  • 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.

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).

Keyword

Hyperparathyroidism-jaw tumor syndrome; MEN1; Primary hyperparathyroidism

MeSH Terms

Female
Frameshift Mutation
Humans
Hyperparathyroidism, Primary
Multiple Endocrine Neoplasia Type 1
Siblings
Thyroid Neoplasms

Figure

  • Fig. 1 Thyroid ultrasonography demonstrates 0.5 cm sized hypoechoic nodule in left thyroid gland (A), preoperative 99mTc-tetrofosmin parathyroid scan shows no significant radioactivity lesion at neck area (B).

  • Fig. 2 High power light microscopic finding shows parathyroid hyperplasia (H&E stain, × 200).

  • Fig. 3 Postoperative 99mTc-tetrofosmin parathyroid scan shows focal faint uptake (arrow) at superior mediastinal area (A), and postoperative chest-enhance CT scan shows 1.2 cm sized-well enhancing nodule (arrow) in superior mediastinum (B).

  • Fig. 4 Sequencing of exon 10 shows P551R (del C) and subsequently frameshift mutation.


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