Multiple Endocrine Neoplasia Type 1 with Functional Parathyroid Cysts

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 tre...

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Detalles Bibliográficos
Autores principales: Koyama, Nobuyuki, Nagase, Terumasa, Kure, Masahiko, Odaka, Tomotada, Kogure, Koichiro, Takeda, Yukihisa, Ishii, Tomoya, Narisawa, Kenichiro, Fujita, Tomoyuki, Fujimori, Minoru, Katsura, Yoshiya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107977/
https://www.ncbi.nlm.nih.gov/pubmed/34645755
http://dx.doi.org/10.2169/internalmedicine.7505-21
Descripción
Sumario: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＞G, p.Leu338Pro) in exon 7 of MEN1. This case demonstrates the phenotypic and genetic diversity of MEN1.

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