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Park, Kang, Lee, Kim, Do, Kang, Han, Kim, Ahn, Cha, Lim, Kim, Kim, and Lee: A Case of Multiple Endocrine Neoplasia Type 1 with Mutation in MENIN Gene
Case Report
Journal of Korean Society of Endocrinology

Journal of Korean Society of Endocrinology 2005; 20(1): 71-77.

Published online: 20 February 2005

DOI: https://doi.org/10.3803/jkes.2005.20.1.71

A Case of Multiple Endocrine Neoplasia Type 1 with Mutation in MENIN Gene

Se Eun Park, Eun Seok Kang, Hyun Joo Lee, So Hun Kim1, Mi Young Do, Shin Ae Kang, Seung Jin Han, Hyeong Jin Kim2, Chul Woo Ahn, Bong Soo Cha, Sung Kil Lim, Kyung Rae Kim, Il Jin Kim1, Hyun Chul Lee

Department of Internal Medicine, Yonsei University College of Medicine, Korea.

1Korean Hereditary Tumor Registry Laboratory, Seoul National University College of Medicine, Korea.

2Department of Internal Medicine, Kwandong University College of Medicine, Korea.

Received 26 October 2004       Accepted 17 November 2004

Copyright © 2005 Korean Endocrine Society

Abstract

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominantly inherited syndrome, characterized by the combined occurrence of tumors of the parathyroid glands, endocrine pancreas, and anterior pituitary gland.
The MENIN gene, which is a kind of tumor suppressor gene, is located at the chromosomal locus 11q13. It consists of one untranslated exon and nine exons encoding the menin protein.
We report a case of a 22-yearss-old woman with MEN type 1, who was proven to have a mutation in the MENIN gene. The patient was admitted because of repeated hypoglycemia. The fasting plasma glucose level was 32 mg/dL. Seventy two hours fasting test showed an the insulin/glucose ratio as 0.33. Endoscopic ultrasonography detected multiple masses on the pancreas. The arterial-stimulated venous sampling (ASVS) with calcium showed sudden step up of insulin at the head and tail portions of the pancreas. The sellar MRI showed a pituitary mass that produced prolactin. Instead of a pathologic diagnosis from operational specimen, the genetic analysis revealed a mutation in the MENIN 1 gene (exon 2, 200~201insAGCCC).

Keywords: Multiple endocrine neoplasia type 1 (MEN 1), Prolactinoma, Insulinoma, Hyperparathyroidism, MENIN gene

Figures and Tables

Fig. 1
Arterial stimulated venous sampling (ASVS)
jkse-20-71-g001
Fig. 2
Endoscopic ultrasonography shows 7 mm sized hypoechoic mass in distal pancreas (arrow)
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Fig. 3
Brain MRI shows 2.5×1.5 cm sized mass at the pituitary gland
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Fig. 4
Sequencing of exon 2 in the MENIN gene shows a frameshift mutation at codon 67
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Table 1
Plasma Glucose, Insulin, and C-peptide Levels During 72-hour Fasting Test
jkse-20-71-i001
Table 2
Arterial Stimulated Venous Sampling (ASVS)
jkse-20-71-i002

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