Korean J Endocr Surg.  2010 Dec;10(4):266-275. 10.16956/kjes.2010.10.4.266.

Early Symptoms and Clinical Manifestations in Korean Patients with Multiple Endocrine Neoplasia

• Kim KH
• Koo MY
• Hur SM
• Lee SK
• Choe JH
• Lee JE
• Kim JS
• Chung JH
• Nam SJ
• Yang JH
• Kim JH

• KMID: 2375481
• DOI: http://doi.org/10.16956/kjes.2010.10.4.266

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.

Keyword

Multiple endocrine neoplasia (MEN); Early symptom; Clinical manifestation; Early diagnosis

MeSH Terms

Early Diagnosis
Genetic Testing
Humans
Hyperparathyroidism
Interviews as Topic
Islets of Langerhans
Male
Mass Screening
Medical Records
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia*
Neck
Parathyroid Glands
Pheochromocytoma
Pituitary Neoplasms
Retrospective Studies
Thyroid Neoplasms

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