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KMID : 0356620110260020171
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Journal of Korean Society of Endocrinology
2011 Volume.26 No. 2 p.171 ~ p.176
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A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene
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Kim Min-Jung
Kim Eun-Hee
Shin Mi-Seon
Kim Joo-Hui
Na Hee-Kyung
Park Seong-Joon
Lee Sang-Ah
Koh Eun-Hee
Lee Woo-Je
Song Ki-Ho
Park Joong-Yeol
Lee Ki-Up
Yoo Han-Wook
Kim Min-Seon
Kim Gu-Hwan
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Abstract
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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.
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KEYWORD
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Multiple endocrine neoplasia type 1, Insulinoma, Hyperparathyroidism
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