A large functioning parathyroid cyst in a patient with multiple endocrine neoplasia type 1.
Endocr J
; 60(6): 709-14, 2013.
Article
em En
| MEDLINE
| ID: mdl-23386389
ABSTRACT
A 62-year-old woman presented with a mass on the left side of the neck. Biochemical testing revealed primary hyperparathyroidism. Further, a prolactinoma was detected, and the patient's son and daughter also had primary hyperparathyroidism, indicating that the patient had multiple endocrine neoplasia type 1 (MEN1). Neck ultrasonography revealed several cystic nodules (≤ 30 mm) that appeared to be adenomatous. After parathyroidectomy with autotransplantation, the largest cystic mass, in the left lower thyroid lobe, was pathologically diagnosed as a functioning parathyroid cyst, and all laboratory data returned to normal. On genetic analysis of blood, we found a novel single base insertion (duplication) in exon 10 codon 552 of the MEN1 gene (c1659dupT) that creates an early stop codon. This is the first case report of a parathyroid cyst resulting from parathyroid hyperplasia in a MEN1 patient.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias das Paratireoides
/
Neoplasia Endócrina Múltipla Tipo 1
/
Cistos
/
Hiperparatireoidismo Primário
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article