Early Symptoms and Clinical Manifestations in Korean Patients with Multiple Endocrine Neoplasia / 대한내분비외과학회지
Korean Journal of Endocrine Surgery
; : 266-275, 2010.
Article
Dans Ko
| WPRIM
| ID: wpr-90089
Responsable en Bibliothèque :
WPRO
ABSTRACT
PURPOSE: Multiple endocrine neoplasia (MEN) syndrome is an inherited, autosomal dominant disease that presents as a combination of several endocrine tumors. Early diagnosis of this syndrome is difficult, because of the nonspecific symptoms and signs. This study analyzed early manifestations and clinical characteristics in patients with MEN syndrome. METHODS: Medical records were retrospectively reviewed and telephone interviews were conducted with 35 patients diagnosed as MEN syndrome at Samsung Medical Center from December 1994 to December 2009. RESULTS: The 35 patients had been diagnosed as MEN1 (n=14), MEN2A (n=19) and MEN2B (n=2). The early manifestations of the 14 MEN1 patients were related with hyperparathyroidism (n=5), pituitary tumor (n=3), and pancreatic endocrine tumor (n=2). There were tumors of the parathyroid gland in all 14 patients, anterior pituitary in eight patients, and pancreatic islet cells in seven patients. Four cases were incidentally detected during the screening examination. Six cases harbored a MEN1 gene mutation. The twenty-one patients diagnosed with MEN2 comprised medullary thyroid cancer (n=20), adrenal pheochromocytoma (n=15), and hyperparathyroidism (n=4). The MTC-related symptoms in the 21 MEN2 patients included neck mass or discomfort in 12 patients and pheochromocytoma-related symptoms in seven patients. Two cases were detected through familial genetic screening test. The RET gene mutationwas detected in 19 cases. CONCLUSION: Early manifestations of MEN syndrome were very different between the types of MEN and the types of its presenting tumor. The early diagnosis and proper management of MEN requires awareness of the clinical characteristics of each expressed tumor and is influenced by genetic screening methods.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Glandes parathyroïdes
/
Phéochromocytome
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Tumeurs de l'hypophyse
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Néoplasie endocrinienne multiple
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Tumeurs de la thyroïde
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Dépistage génétique
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Dépistage de masse
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Dossiers médicaux
/
Entretiens comme sujet
/
Études rétrospectives
Type d'étude:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Qualitative_research
/
Screening_studies
Limites du sujet:
Humans
/
Male
langue:
Ko
Texte intégral:
Korean Journal of Endocrine Surgery
Année:
2010
Type:
Article