- Analysis of Ret Proto-oncogene Mutation in Korean Patients with Medullary Thyroid Carcinomas.
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Hyung Hoon Kim, Hyun Jin Kim, Yun Jae Chung, Yong Ki Min, Myung Shik Lee, Moon Kyu Lee, Kwang Won Kim, Chang Seok Ki, Jong Won Kim, Jae Hoon Chung
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J Korean Endocr Soc. 2003;18(4):360-370. Published online August 1, 2003
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 Abstract
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- BACKGROUND
Medullary thyroid carcinomas (MTC) have been reported as hereditary in about 25 ~30% of cases. The identification of germline mutation in RET proto-oncogene is important in the diagnosis of hereditary MTC, and occurs in three forms: MEN 2A, MEN 2B and familial MTC (FMTC). To evaluate the prevalence of the relationship of RET proto-oncogene mutation and genotype-phenotype was studied in Korean patients with MTC. METHODS: Genomic DNA was obtained from 29 patients, with MTC, who underwent a total thyroidectomy, between 1997 and 2003, at the Samsung Medical Center. There were 7 male and 22 female patients, with an average age of 39, ranging from 20 to 60 years. Exon 10, 11, 13, 14 and 16 of the RET proto-oncogene were amplified, with specific primers, using PCR. A sequencing analysis was performed on the PCR product using an automatic sequencing analyzer. RESULTS: Nine of the 29 patients (31%) were identified as having RET mutations. The average age of these 9 patients was 33 years, ranging from 20 to 51, with a female to male ratio of 2. Five patients had MEN 2A and one had FMTC, with the other 3 thought to have non-hereditary (sporadic) MTC. The 4 patients with MEN 2A had RET mutations on codon 634 of exon 11 (2 patients, C634R; 2 patients, C634Y) and the other patient on codon 618 of exon 10 (C618R). One patient with FMTC had a mutation on codon 634 (C634W). Three patients with sporadic MTC had RET mutations on codon 634 (2 patients, C634Y; 1 patient, C634S). However, no genotype- phenotype relationship could be found, due to the limited number of patients. CONCLUSION: Thirty-one percent (9/29) of the patients with MTC had RET proto-oncogene mutations. Three-quarters (9/12) of the Korean patients with MEN 2A, including another 7 patients reported in 3 papers in Korea, had RET mutations on codon 634 of exon 11 (4 patients, C634R; 4 patients, C634Y; 1 patient, C634W), but a quarter (3/12) had mutations on codon 618 of exon 10 (2 patients, C618R; 1 patient, C618S). Although no relations could be found between the genotypes and phenotypes, extensive prospective studies will be required to verify this.
- Clinical and Ultrasonographic Characteristics of Malignant Thyroid Incidentalomas.
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Hahn Wook Kang, Kwang Won Kim, Byung Wan Lee, Bo Hyun Kang, Hyung Hoon Kim, Bum Jin Kim, Jae Hoon Chung, Yong Ki Min, Myung Shik Lee, Moon Kyu Lee
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J Korean Endocr Soc. 2002;17(5):649-656. Published online October 1, 2002
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- BACKGROUND
High-resolution ultrasonography has made the detection of asymptomatic small thyroid possible. Recent increases in the detection of incidentalomas have created a clinical dilemma on how to properly manage such incidental nodules. We investigated the prevalence, clinical and ultrasonographic characteristics, and optimal diagnostic approach toward incidentally detected benign and malignant thyroid nodules of less than 1.5 cm in size. METHODS: A retrospective review was undertaken on the 1,475 patients who had visited Samsung Medical Center, Seoul Korea between January 1999 and December 2000. The review consisted of a physical examination of the thyroid gland, thyroid function test, antithyroid antibodies, thyroid ultrasonography, fine-needle aspiration biopsy, pathology and TNM staging of the incidentally detected thyroid nodules of less than 1.5 cm in size. RESULTS: The prevalence of thyroid incidentalomas was 13.4% and the malignancy rate within them was 28.8%. There were no significant differences in age, sex, thyroid function test and size between the benign and malignant incidentalomas. Ultrasonographic characteristics showed meaningful diagnostic value for the detection of malignancy in incidentalomas. Most malignant incidentalomas were of a low stage. CONCLUSION: Occult thyroid cancers are fairly common finding. There are no clinical difference between benign and malignant thyroid nodules less than 1.5 cm ; however, ultrasonographic fingings can be used to decision of optimal management strategies.
- A Case of Acromegaly with Diabetic Ketoacidosis and Hypertriglyceridemia-Induced Acute Pancreatitis .
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Choon Young Lee, Moon Kyu Lee, Sun Young Lee, Sung No Hong, Hyung Hoon Kim, Bo Hyun Kang, Han Wook Kang, Byung Wan Lee, Yu Jeong Park, Yong Ki Min, Myung Shik Lee, Kwang Won Kim, Jong Hyun Kim
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J Korean Endocr Soc. 2002;17(1):110-116. Published online February 1, 2002
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- Secondary diabetes mellitus caused by increased growth hormone secretion (GH) has well been known. There is a close association between glucose intolerance and GH secretion, and increased GH level itself probably worsens the blood glucose control and lipid profile by increasing glycogenolysis and / or gluconeogenesis and by suppressing lipase activity. We report a case of acromegaly with diabetic ketoacidosis as and hypertriglyceridemia-induced acute pancreatitis. A 38 year old male, previously diagnosed to have acromegaly and diabetes, presented with nausea, vomiting, diffuse abdominal pain and altered mentality. There was no history of drug or alcohol consumption, blood gas analysis showed severe acidosis and urinanalysis for ketone was positive. His serum blood glucose, amylase and lipase levels were 494 mg/dL, 331 U/L, and 1288 U/L, respectively (reference values: 70~110 mg/dL, 13~100 U/L and 13~190 U/L, respectively). The patient was diagnosed as having diabetic ketoacidosis and acute pancreatitis. With the serum concentration of triglyceride being 1488 mg/dL and the absence of any obvious precipitating factors, we considered hypertriglyceridemia to be the cause of acute pancreatitis. He was treated with continuous intravenous insulin infusion, lipid lowering agent, and fluid replacement. After conservative management, general condition gradually improved and his serum amylase, lipase and triglyceride levels were all normalized. GH level was not suppressed under 2 ng/mL during oral glucose loading test, and basal GH and IGF levels were 231 ng/mL and 29.5 ng/mL, respectively. Sella MRI showed a 3.7 cm sized pituitary mass. On the 55th day of admission, transsphenoidal surgery was performed. In immunohistochemical staining, the pathologic tumor specimen was proved to be GH positive pituitary adenoma. This is the first case reported in the English literature of an acromegaly presenting with diabetic ketoacidosis and acute pancreatitis
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