A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene.
10.3803/EnM.2011.26.2.171
- Author:
Min Jung KIM
1
;
Eun Hee KIM
;
Mi Seon SHIN
;
Joo Hui KIM
;
Hee Kyung NA
;
Seong Joon PARK
;
Sang Ah LEE
;
Eun Hee KOH
;
Woo Je LEE
;
Ki Ho SONG
;
Joong Yeol PARK
;
Ki Up LEE
;
Gu Hwan KIM
;
Han Wook YOO
;
Min Seon KIM
Author Information
1. Department of Internal Medicine, University of Ulsan College of Medicine, Seoul, Korea. mskim@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Multiple endocrine neoplasia type 1;
Insulinoma;
Hyperparathyroidism
- MeSH:
Adenoma;
Fathers;
Female;
Gastrinoma;
Genes, Tumor Suppressor;
Genes, vif;
Humans;
Hyperparathyroidism;
Insulinoma;
Islets of Langerhans;
Mass Screening;
Multiple Endocrine Neoplasia;
Multiple Endocrine Neoplasia Type 1;
Pancreatectomy;
Parathyroid Glands;
Parathyroid Neoplasms;
Parathyroidectomy;
Pituitary Gland;
Prolactinoma;
Siblings;
Unconsciousness;
Young Adult
- From:Endocrinology and Metabolism
2011;26(2):171-176
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the occurrence of multiple tumors in the parathyroid gland, pancreatic islet, and pituitary gland. This condition is caused by mutations of MEN1, a tumor suppressor gene. Thus far, 565 different germline and somatic mutations of the MEN1 gene have been reported. Herein, we describe the case of a 23-year-old woman who suffered from a repetitive loss of consciousness. After workup, the patient was diagnosed with MEN1 with insulinoma, hyperparathyrodism due to parathyroid adenoma, and non-functioning pituitary microadenoma. She underwent a partial parathyroidectomy and distal pancreatectomy. Familial screening of MEN1 revealed that her brother had prolactinoma, hyperparathyroidism, pancreatic gastrinoma and non-functioning adrenal adenoma. Her father had hyperparathyroidism, pancreatic tumor, and adrenal adenoma. Upon genetic analysis of the MEN1 gene, a novel mutation in the MEN1 gene (exon 1, c.251del; p.Ser84LuefsX35) was detected in the patient, as well as her father and brother.
