A Case of Familial Multiple Endocrine Neoplasia Type 1 with a Novel Mutation in the MEN1 Gene
Endocrinology and Metabolism
; : 171-176, 2011.
Article
en Ko
| WPRIM
| ID: wpr-121310
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Pancreatectomía
/
Neoplasias de las Paratiroides
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Glándulas Paratiroides
/
Hipófisis
/
Inconsciencia
/
Neoplasia Endocrina Múltiple
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Gastrinoma
/
Prolactinoma
/
Adenoma
/
Tamizaje Masivo
Tipo de estudio:
Screening_studies
Límite:
Female
/
Humans
Idioma:
Ko
Revista:
Endocrinology and Metabolism
Año:
2011
Tipo del documento:
Article