Endocrinology and Metabolism

Seon Yong Jeong (Jeong SY)

3 Articles

A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene.: Tae Jin Park, Joon Koo Kang, Kyoung Woo Seo, Hae Jin Kim, Yoon Sok Chung, Kwan Woo Lee, Seon Yong Jeong, Hyon Ju Kim, Dae Jung Kim; J Korean Endocr Soc. 2007;22(4):277-281. Published online August 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.4.277

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Resistance syndrome to thyroid hormone (RTH) is a rare autosomal dominant disease that is characterized by decreased tissue responsiveness to thyroid hormone, and it is mainly due to mutations of the thyroid hormone receptor beta (THRB) gene. We report here on a 36-years old male who had mild thyroid goiter and general weakness. The thyroid function test showed elevated levels of total T3 and free T4. The levels of TSH and the free alpha subunit were in normal ranges. Mutation analysis of the THRB gene revealed the missense mutation G345D. We report here on the clinical features and THRB gene mutation analysis of a case of RTH.

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A Case of Resistance to Thyroid Hormone with Thyroid Cancer
Hee Kyung Kim, Doi Kim, Eun Hyung Yoo, Ji In Lee, Hye Won Jang, Alice Hyun Kyung Tan, Kyu Yeon Hur, Jae Hyeon Kim, Kwang-Won Kim, Jae Hoon Chung, Sun Wook Kim
Journal of Korean Medical Science.2010; 25(9): 1368. CrossRef

A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation.: Young Eun Jo, Yong Jun Choi, Yun Kyung Kim, Sang Mi Ahn, Sun Hye Jung, Hae Jin Kim, Dae Jung Kim, Kwan Woo Lee, Ji Hee Hong, Seon Yong Jeong, Hyon J Kim, Yoon Sok Chung; J Korean Endocr Soc. 2007;22(1):68-73. Published online February 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.1.68

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Abstract PDF

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and pituitary gland tumors. It is caused by mutation of the MEN1, a tumor suppressor gene, with more than 400 different MEN1 mutations having been described. Herein is reported the case of a 26-year-old woman who had complained of personality and behavior changes, coupled with repetitive loss of consciousness. Her random plasma glucose and insulin were 68 mg/dL and 67.3 microIU/mL, respectively. Two pancreatic masses were noted on abdominal computed tomography, with hypercalcemia noted from a routine chemistry test. Her diagnosis was that of MEN1; therefore, her first-degree relatives were also screened. DNA analysis was also performed, from which a MEN1 gene mutation (738del4 -> new nomenclature: 628del4) was detected. Knowledge of the MEN1 mutation status could provide early recognition of a tumor.

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Genetic and Epigenetic Analysis in Korean Patients with Multiple Endocrine Neoplasia Type 1
Yoon Jung Chung, Sena Hwang, Jong Ju Jeong, Sun Yong Song, Se Hoon Kim, Yumie Rhee
Endocrinology and Metabolism.2014; 29(3): 270. CrossRef
Somatic Mutational Analysis of MEN1 and Phenotypic Correlation in Sporadic Parathyroid Tumors
Young Su Chae, Hee Jin Kim, Sun Wook Kim, Myung-Chul Chang
Journal of the Korean Surgical Society.2009; 76(1): 15. CrossRef

A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene.: Yeon Kyeong Kim, Jin Woo Kim, Sang Mi Ahn, Kyoung Eun Song, Sun Hye Jung, Dae Jung Kim, Yoon Sok Chung, Kwan Woo Lee, Chul Ho Kim, Ji Hee Hong, Seon Yong Jeong, Hyon Ju Kim; J Korean Endocr Soc. 2005;20(4):375-380. Published online August 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.4.375

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Abstract PDF

A medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which is composed of multiple endocrine neoplasia 2A and 2B, with a familial medullary thyroid carcinoma. Germline mutations of the RET gene are the underlying cause of the majority of hereditary medullary carcinomas. Here, the case of a 42 years-old man with a familial medullary thyroid carcinoma, confirmed by the detection of a RET proto-oncogene mutation at exon 13 on codon 768 from a GAG(Glu) to a GAT(Asp), is described. The patient underwent a total thyroidectomy and modified radical neck dissection. His sister was found to have the same mutant gene.

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A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation
Young Sik Choi, Hye Jung Kwon, Bu Kyung Kim, Su Kyoung Kwon, Yo Han Park, Jeong Hoon Kim, Sang Bong Jung, Chang Hoon Lee, Seong Keun Lee, Shinya Uchino
Journal of Korean Medical Science.2013; 28(1): 156. CrossRef
A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene
Seoung Wook Yun, Won Sang Yoo, Koo Hyun Hong, Bae Hwan Kim, Min Ho Kang, Young Kwang Choo, Hee Yoon Park, Do Hee Kim, Hyun-Kyung Chung, Myung-Chul Chang, Mi Seon Kwon, Hee Jin Kim
Journal of Korean Endocrine Society.2007; 22(6): 453. CrossRef

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