Endocrinol Metab.  2011 Jun;26(2):171-176. 10.3803/EnM.2011.26.2.171.

A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene

• Kim MJ
• Kim EH
• Shin MS
• Kim JH
• Na HK
• Park SJ
• Lee SA
• Koh EH
• Lee WJ
• Song KH
• Park JY
• Lee KU
• Kim GH
• Yoo HW
• Kim MS

• KMID: 1497726
• DOI: http://doi.org/10.3803/EnM.2011.26.2.171

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.

Keyword

Multiple endocrine neoplasia type 1; Insulinoma; Hyperparathyroidism

MeSH Terms

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