Endocrinology and Metabolism

Hyon Seung Yi (Yi HS)

5 Articles

Mutational Analysis of the NF1 Gene in Two Families with Neurofibromatosis 1 Accompanied by Pheochromocytoma.: Hyon Seung Yi, Sei Hyun Kim, Jihoon Kim, Eun Jin Bae, Suntaek Hong, Ie Byung Park, Yu Jin Kim, Sihoon Lee; Endocrinol Metab. 2011;26(2):177-184. Published online June 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.2.177

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Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders affecting the nervous system. NF1 is associated with mutations in the NF1 gene, which is located on chromosome sub-band 17q11.2 and contains 57 exons spanning approximately 300 kb of genomic DNA. NF1 is caused by a loss of function mutation of the NF1 gene, a tumor suppressor gene, which encodes for neurofibromin, a GTPase-activating protein (GAP) involved in the negative regulation of Ras activity. The GAP-related domain, which is encoded for by exons 20-27a, is one of the most important functional domains in neurofibromin. The cysteine-serine-rich domain has been recognized as an important functional domain in NF1-related pheochromocytomas. As the result of many genetic analyses of NF1-related pheochromocytomas, pheochromocytoma has generally been recognized as a true component of NF1. We recently experienced two families with NF1 accompanied by pheochromocytoma. The proband of family 1 is a 31-year-old female diagnosed with NF1 and pheochromocytoma. Gene analysis of the proband and her sister showed that the mutation of the NF1 gene (c.7907+1G>A) led to the skipping of exon 53 during NF1 mRNA splicing. The proband of family 2 is a 48-year-old male who was diagnosed with the same condition. Gene analysis demonstrated the mutation of the NF1 gene (c.5206-8C>G) with missplicing of exon 37. These novel germline mutations did not fall into the GAP-related nor the cysteine-serine-rich domains, but into the C-terminal area of the NF1 gene. This suggests that the correlation between the genotype and phenotype of NF1-related pheochromocytoma is somewhat difficult to characterize. Further studies will be necessary to confirm the function of the C-terminal area of the NF1 gene and its contribution to the development of NF1 and pheochromocytoma.

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Mutation Spectrum of NF1 and Clinical Characteristics in 78 Korean Patients With Neurofibromatosis Type 1
Jung Min Ko, Young Bae Sohn, Seon Yong Jeong, Hyon-Ju Kim, Ludwine M. Messiaen
Pediatric Neurology.2013; 48(6): 447. CrossRef
Oncologic manifestations of neurofibromatosis type 1 in Korea
Eui Tae Kim, Hwan Namgung, Hyun Deok Shin, Soon Il Lee, Jee Eun Kwon, Myung Chul Chang, Dong Guk Park
Journal of the Korean Surgical Society.2012; 82(4): 205. CrossRef

A Case of Primary Hyperparathyroidism Caused by Solitary Parathyroid Adenoma That was Not Detected by Both Ultrasonography and Sestamibi Scan.: Kyong Yong Oh, Byoungho Choi, Yukyung Lee, Do Hwan Kim, Hyon Seung Yi, Kwang Jun Kim, Sihoon Lee, Sung Kil Lim; Endocrinol Metab. 2011;26(2):166-170. Published online June 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.2.166

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Thanks to advances in assay techniques and routine measurements in serum chemical analysis, primary hyperparathyroidism has become far more frequently detected, and the number of asymptomatic patients has substantially increased. In the majority of patients (85%), a solitary adenoma is the underlying cause of primary hyperparathyroidism. Surgical excision is the treatment of choice for most cases of primary hyperparathyroidism; this procedure has a relatively high success rate. In the past decade, improvements in preoperative imaging have played a major role in a targeted operative approach, which allows for minimally invasive surgery to be performed. The success of parathyroid surgery depends on the accurate preoperative localization of parathyroid adenoma. In this study, we report the case of a 54 year-old woman with primary hyperparathyroidism who presented with left buttock and leg pain. For localization of the parathyroid lesion, an ultrasonography and a 99mTc-sestamibi scan were initially performed, but these attempts failed to localize the lesion. We then carried out contrast-enhanced CT; thereafter, a single parathyroid adenoma was detected. Therefore, in patients with negative results on both ultrasonography and 99mTc-sestamibi scan, contrast-enhanced CT may prove helpful for preoperative parathyroid localization.

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Primary Hyperparathyroidism with Ectopic Parathyroid Adenoma Detected by Both99mTc-MIBI SPECT and Contrast-Enhanced Neck CT
Hye Jin Lim, Dong Geum Shin, Jun Bong Kim, Jin Taek Kim, Hyo Jeong Kim, Man Sil Park, Ho Jeong Lee
Korean Journal of Medicine.2012; 83(5): 641. CrossRef

Molecular Understanding and Assessment of Hypoparathyroidism.: Hyon Seung Yi, Byoungho Choi, Sihoon Lee; Endocrinol Metab. 2011;26(1):25-32. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.25

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Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study
So Young Park, Young Sil Eom, Byoungho Choi, Hyon-Seung Yi, Seung-Hee Yu, Kiyoung Lee, Hyun-Seok Jin, Yoon-Sok Chung, Tae Sik Jung, Sihoon Lee
Journal of Korean Medical Science.2013; 28(10): 1489. CrossRef

A Case of Adrenal Actinomycosis that Mimicked a Huge Adrenal Tumor.: Eui Joo Kim, Hyon Seung Yi, Inku Yo, Sanghui Park, Kyoung Min Kim, Yoon Soo Park, Sihoon Lee, Yeun Sun Kim, Ie Byung Park; Endocrinol Metab. 2010;25(2):147-151. Published online June 1, 2010; DOI: https://doi.org/10.3803/EnM.2010.25.2.147

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The incidence of adrenal incidentalomas has increased because imaging studies are now being more frequently performed, including abdominal sonography, CT and MRI. Although there is only a consensus on the treatment of adrenal incidentalomas from the National Institute of Health (NIH) conference 2003, it is generally accepted that surgical resection is required if there's any possibility of malignancy or functionality of the adrenal tumor. Abdominopelvic actinomycosis is a rare chronic progressive suppurative disease that is caused by gram-positive bacteria of the genus actinomyces, which is part of the normal flora of the oral cavity and gastrointestinal tract, with low virulence. Herein, we report on a case of adrenal actinomycosis that imitated a huge adrenal tumor in a 39-year-old women, and the adrenal actinomycosis was confirmed histologically only after adrenalectomy. To the best of our knowledge, this is the first Korean case report on actinomycosis that occurred in the adrenal gland.

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Masking and misleading: concomitant actinomycosis and B-cell lymphoma – a case report and review of literature
Jo Anne Lim, Peng Shyan Wong, Kar Nim Leong, Kar Loon Wong, Ting Soo Chow
Scottish Medical Journal.2018; 63(4): 125. CrossRef

A Case of Hashimoto's Thyroiditis Accompanied by Autoimmune Hepatitis Diagnosed with Liver Biopsy.: Young Jun Lee, Ji Yoon Sung, Sei Hyun Kim, Hyon Seung Yi, Yun Soo Kim, Sihoon Lee, Ie Byung Park; J Korean Endocr Soc. 2009;24(4):287-292. Published online December 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.4.287

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Autoimmune thyroid diseases, including Hashimoto's thyroiditis (HT), are common organ-specific autoimmune disorders that often occur in conjunction with other autoimmune diseases. Autoimmune hepatitis (AIH) is a relatively rare disease of unknown etiology. In this condition, progressive destruction of the liver parenchyma occurs. Without proper treatment with immunosuppressive agents, such as prednisone and azathioprine, this condition leads to cirrhosis and liver failure. Timely detection and appropriate treatment of the AIH is prerequisite for the long-term survival of affected patients. We report here a case of HT accompanied by AIH confirmed by liver biopsy. On the basis of this case report, we suggest that, a sustained elevation of aminotransferases refractory to thyroid dysfunction correction should result in a liver biopsy to differentiate AIH from other forms of liver dysfunction or secondary to thyroid disorders. Treatment should commence promptly.

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Autoimmune Hashimoto thyroiditis with concomitant autoimmune hepatitis
Nevena Manevska, Natasa Stojkovska, Ljubica Tasheva, Marija Jovanovski-Srceva, Tanja Makazlieva, Sinisha Stojanoski
Archives of Public Health.2022;[Epub] CrossRef
A Case of Demyelinating Peripheral Neuropathy Associated with Hashimoto`s Thyroiditis
Jung Hwan Park M.D., Sang Mo Hong M.D., Chang Bum Lee M.D., Yong Soo Park M.D., Dong Sun Kim M.D., Woong Hwan Choi M.D., You Hern Ahn M.D.
Journal of the Korean Geriatrics Society.2011; 15(4): 234. CrossRef

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