Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts.
Intern Med
; 61(8): 1183-1188, 2022 04 15.
Article
em En
| MEDLINE
| ID: mdl-34645755
ABSTRACT
A 51-year-old woman was admitted because of hypercalcemia. Neck ultrasonography and computed tomography revealed the presence of parathyroid cysts on both sides. After primary hyperparathyroidism was diagnosed by technetium-99m-methoxyisobutylisonitrile scintigraphy, the patient was successfully treated with total parathyroidectomy and autotransplantation. She also had a non-functioning pancreatic neuroendocrine tumor, prolactinoma, and adrenal tumors with subclinical Cushing's syndrome. Given these clinical features and her family history, multiple endocrine neoplasia type 1 (MEN1) was suspected, and germline DNA sequencing revealed a missense mutation (c.1013T>C, [corrected] p.Leu338Pro) in exon 7 of MEN1. This case demonstrates the phenotypic and genetic diversity of MEN1.
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MEDLINE
Assunto principal:
Neoplasias Hipofisárias
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Prolactinoma
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Neoplasia Endócrina Múltipla Tipo 1
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Cistos
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article