Endocrinology and Metabolism

Sang Mi Ahn (Ahn SM)

6 Articles

A Case of Down's Syndrome with Thyrotoxic Crisis.: Jae Ho Jung, Sang Mi Ahn, Hyon J Kim, Hae Jin Kim, Dae Jung Kim, Kwan Woo Lee, Yoon Sok Chung; J Korean Endocr Soc. 2007;22(3):225-228. Published online June 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.3.225

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Abstract PDF: Patients with Down's syndrome have an increased prevalence of autoimmune disorders that affect both the endocrine and non-endocrine organs. The most common thyroid abnormality in Down's syndrome is subclinical hypothyroidism (12.5~32.5%). The occurrence of Down's syndrome in conjunction with hyperthyroidism is rare (0.6~2.5%). A 35-year old female was transferred to our hospital because of hypotension and mental change. She had suffered from a poor oral intake and general weakness for the previous 1 week. She had been admitted local hospital and was diagnosed as hyperthyroidism. On the third day after admission, she lost consciousness and was then transferred to University Hospital. Physical examination revealed hypotension (76/39 mmHg), sinus tachycardia (111/min) and tachypnea (28/min). The upward-outward slant of the palpebral fissures, epicanthal folds, low-set ears, short stature and clinodactyly were all identified. The thyroid gland was not enlarged and there was no evidence of ophthalmopathy. The serum free T4 concentration was 3.32 ng/dL, the T3 level was 212 ng/dL and the TSH level was 0.01 uIU/mL. She was positive for TBII. Abdominal computed tomography showed ascites and pneumoperitoneum. Primary closure was done on the duodenal ulcer perforation site. She was treated with transrectal propylthiouracil and intravenous esmolol. Chromosomal analysis revealed 47XX and 21 trisomy. She was finally diagnosed as Down's syndrome, Graves' disease and duodenal ulcer perforation. Her hyperthyroidism was controlled with PTU 100 mg after discharge.

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

Relationship between Diabetic Peripheral Vascular Disease and Ankle-Brachial Index.: Bo Ram Koh, Yun Kyung Kim, Sang Mi Ahn, Kyoung Eun Song, Sun Hye Jung, Hae Jin Kim, Dae Jung Kim, Yoon Sok Chung, Kwan Woo Lee; J Korean Endocr Soc. 2006;21(5):382-388. Published online October 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.5.382

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BACKGROUND
Peripheral vascular disease (PVD) is a primary risk factor of foot amputation. In patients with diabetes mellitus (DM), the frequency of PVD is twice that of the general population. The ankle-brachial index (ABI) is a valuable diagnostic test for PVD. In this study, we investigated the relationship between the ABI and PVD, as well as the cutoff value of ABI in the diagnosis of PVD, and analyzed whether the ABI can be used as a predictor for amputation. METHODS: Fifty-two type 2 DM patients (31 males, 21 females) underwent peripheral angiography. PVD was defined as the complete obstruction of arteries and/or significant luminal narrowing, with collateral vessels formation, using peripheral angiography. The ABI was calculated by measurement of the segmental pressure using the Doppler method. RESULTS: Significant differences were observed between PVD and non-PVD patients in terms of age, systolic pressure and total cholesterol (each P < 0.05). The ABI was significantly lower in legs with PVD (P < 0.01) and an ABI less than 0.90 was adequate for diagnosing PVD. The risk of amputation was significantly increased in relation to the ABI level, and the risk of amputation was 21.5 times greater in a leg with an ABI less than 0.40 compared to 0.90 (P = 0.021). CONCLUSION: ABI is a good diagnostic test for PVD and a good predictor of the need for amputation.

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The Relationship between Body Mass Index and Diabetic Foot Ulcer, Sensory, Blood Circulation of Foot on Type II Diabetes Mellitus Patients
Yi Kyu Park, Jun Young Lee, Sung Jung, Kang Hyeon Ryu
Journal of the Korean Orthopaedic Association.2018; 53(2): 136. CrossRef
The Relationship Between the Metabolic Syndrome and Systolic Inter-Arm Systolic Blood Pressure Difference in Korean Adults
Hyun Yoon, Seong Woo Choi, Jong Park, So Yeon Ryu, Mi Ah Han, Gwang Seok Kim, Sung Gil Kim, Hye Jong Oh, Cheol Won Choi
Metabolic Syndrome and Related Disorders.2015; 13(8): 329. CrossRef

Relationship between Childhood and Adolescent Obesity and Remnant Lipoprotein.: Yong Jun Choi, Young Eun Jo, Yun Kyung Kim, Sang Mi Ahn, Seung Hee Baik, Sun Hye Jung, Hae Jin Kim, Yoon Sok Chung, Kwan Woo Lee, Dae Jung Kim; J Korean Endocr Soc. 2006;21(4):311-318. Published online August 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.4.311

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BACKGROUND
Remnant lipoproteins are the lipolytic degradation product of the triglyceride-rich lipoproteins produced by the liver (very-low-density lipoprotein cholesterol) and intestine (chylomicrons). Recent studies have demonstrated a correlation between remnant lipoproteins and cardiovascular risk. Our study assessed the relationship between obesity and remnant lipoproteins and evaluated the factors related to remnant lipoprotein in children and adolescents. METHODS: Body mass index (BMI), waist circumference, systolic and diastolic blood pressures, body fat mass, total abdominal fat, visceral and subcutaneous fat areas, total cholesterol, triglyceride (TG), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C) and remnant lipoprotein cholesterol (RLP-C) were measured in 135 children and adolescents (67 boys and 68 girls). Plasma RLP fractions were isolated using an immunoaffinity gel containing specific anti-apoB-100 and anti-apoA-I antibodies. The subjects were divided into three groups: the low (< 50 percentile), mid (50~84 percentile), and high (> or = 85 percentile) BMI groups. RESULTS: RLP-C was significantly correlated with age, sex, BMI, waist circumference, systolic and diastolic blood pressures, visceral and subcutaneous fat areas, visceral fat area to subcutaneous fat area ratio (VSR), total cholesterol, TG, HDL-C, apoB, and HOMA-IR. From a multivariate regression analysis, TG (beta = 0.928, P < 0.001) was found to be independently correlated with RLP-C. After excluding TG as an independent variable, a multivariate regression analysis revealed that the HOMA-IR (beta=0.231, P=0.007) and systolic blood pressure (beta=0.169, P=0.046) were independently associated with RLP-C. CONCLUSION: RLP-C was significantly higher in obese children and adolescents. TG, systolic blood pressure, and insulin resistance were related to remnant lipoproteins.

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Epidemiology of Childhood Obesity in Korea
Kyoung Hwa Ha, Dae Jung Kim
Endocrinology and Metabolism.2016; 31(4): 510. CrossRef

A Case Report of von Hippel-Lindau Disease Manifested in a Monozygous Twin.: Jin Woo Kim, Sang Jo Choi, Yeon Kyeong Kim, Sang Mi Ahn, Kyoung Eun Song, Sun Hye Jung, Dae Jung Kim, Yoon Sok Chung, Kwan Woo Lee, Il Jin Kim, Hio Chung Kang, Jae Gahb Park; J Korean Endocr Soc. 2005;20(4):395-400. Published online August 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.4.395

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Von Hippel-Lindau (VHL) disease is an autosomal dominant disease, which forms hypervascular tumors in multiple organs, such as hemangioblastomas in the retina and central nervous system, renal cell carcinomas, pheochromocytomas and cysts in various organs. Recent advances in gene testing have made it possible to screen family members for VHL disease. We experienced a 28 year-old male, who was diagnosed with bilateral pheochromocytomas through a family screening test when his elder monozygous twin brother was diagnosed with a pheochromocytoma. He received no treatment until December, 2004, when he visited the Emergency room due to a headache. A hemangioma of the cerebellum was seen in the brain MR study, leading to the diagnosis of type 2A VHL disease. An abdominal CT scan revealed no lesions of the pancreas or kidney. There was no evidence of a hemangioma in the retinal scan. The subsequent gene testing showed a germline mutation in exon 3 codon 167 of the VHL gene. The mother of the patient was revealed to have the same mutation of the VHL gene, but the elder brother of the patient did not.

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Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
Sena Hwang, Cheol Ryong Ku, Ji In Lee, Kyu Yeon Hur, Myung-Shik Lee, Chul-Ho Lee, Kyo Yeon Koo, Jin-Sung Lee, Yumie Rhee
Journal of Human Genetics.2014; 59(9): 488. CrossRef
A Case of Type 1 von Hippel-Lindau (VHL) Disease associated with VHL Germline Mutation
Jeong Hoon Seo, Jae Hong Yang, Pyoung Lak Choi, Yu Lee Kim, Young Sik Choi, Yo Han Park, Ji Ho Ko, Hio Chung Kang, IL Jin Kim, Jae Gahb Park
Journal of Korean Endocrine Society.2006; 21(3): 239. 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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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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