A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene
Endocrinology and Metabolism
;
: 171-176, 2011.
Artigo
em Coreano
| WPRIM
| ID: wpr-121310
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pancreatectomia
/
Neoplasias das Paratireoides
/
Glândulas Paratireoides
/
Hipófise
/
Inconsciência
/
Neoplasia Endócrina Múltipla
/
Gastrinoma
/
Prolactinoma
/
Adenoma
/
Programas de Rastreamento
Tipo de estudo:
Estudo de rastreamento
Limite:
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Endocrinology and Metabolism
Ano de publicação:
2011
Tipo de documento:
Artigo
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