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Bo Wan Kim  (Kim BW) 11 Articles
A Case of Pseudopseudohypoparathyroidism with Normal Stature.
Sae Rom Kim, Yun Jeong Doh, Hee Kyung Kim, Seong Su Moon, Ju Young Lee, Jae Han Jeon, Soo Won Kim, Bo Wan Kim, In Kyu Lee, Jung Guk Kim
J Korean Endocr Soc. 2009;24(2):138-143.   Published online June 1, 2009
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  • 1 Citations
AbstractAbstract PDF
Pseudopseudohypoparathyroidism (PPHP) is characterized by the phenotype of Albright hereditary osteodystrophy (AHO) alone without biochemical evidence of multihormone resistance, which is unlike pseudohypoparathyroidism. AHO is associated with characteristic developmental abnormalities that include a short stocky stature, a short neck, brachydactyly, a round face, central obesity, mental retardation and subcutaneous ossifications. AHO is an autosomal dominant disease that's caused by heterozygous inactivating mutations in the Gsalpha gene (GNAS1). Melanocortin-4 receptor (MC4R) is a hypothalamic Gs-coupled receptor that is thought to mediate the central effect of leptin on satiety. MC4R mutations cause morbid obesity starting in infancy, as well as an elevated leptin level. A 62 year old man with a height of 171.5 cm, a round face, a short neck, central obesity and brachydactyly had normal ranges of serum calcium, phosphorus and PTH and a normal Ellsworth-Howard test. GNAS1 gene analysis revealed substitution of alanine to cysteine in the 165 codon of exon 6 and substitution of alanine to cysteine in the 231 codon of exon 9. Two known SNPs (Cyt-1042Thy, Gua-719Ade) in the MC4R were detected in the patient. We report here on a case of PPHP and the patient had normal stature. We propose that MC4R may have contributed to the obesity & normal stature of this patient.


Citations to this article as recorded by  
  • Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism
    Sang Jin Kim, Sang-Yoon Kim, Han-Byul Kim, Hyukwon Chang, Ho-Chan Cho
    Endocrinology and Metabolism.2013; 28(3): 236.     CrossRef
Urinary Bladder Pheochromocytoma with a Long Asymptomatic Period.
Soon Hong Park, Jung Eun Lee, Sung Soo Moon, Joo Young Lee, Eui Dal Jung, Jung Guk Kim, In Kyu Lee, Bo Wan Kim
J Korean Endocr Soc. 2006;21(5):402-407.   Published online October 1, 2006
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AbstractAbstract PDF
Pheochromocytoma arises from chromaffin cells of the paraganglionic system. Urinary bladder pheochromocytoma is very rare tumor that accounts for less than 0.06% of all urinary bladder tumors and it is less than 1% of all pheochromocytoma. Urinary bladder pheochromocytoma usually arises from the sympathetic nervous system of the bladder wall. Paroxysmal headache and palpitation precipitated by micturition are common specific symptoms of this tumor. The paroxysm commonly persists or the patients relapse in a few days or months. Herein, we report a case of urinary bladder pheochromocytoma with a long asymptomatic period.
A Case of Acute Adrenal Insufficiency with Bilateral Adrenal Hemorrhagic Infarction due to Ebstein-Barr Virus Infection in a Patient with Asymptomatic Chronic Adrenal Insufficiency.
Sung Chang Chung, Soon Hong Park, Joo Young Lee, Shin Won Lee, Gui Hwa Jeong, Sun Zoo Kim, Han Ik Bae, Hun Kyu Ryeom, Jung Guk Kim, Young Oh Kweon, Sung Woo Ha, Bo Wan Kim
J Korean Endocr Soc. 2004;19(2):217-222.   Published online April 1, 2004
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  • 18 Download
AbstractAbstract PDF
Acute adrenal insufficiency may result from adrenal crisis, hemorrhagic destruction, or the rapid withdrawal of steroids from patient with chronic steroid medication, congenital adrenal hyperplasia or those on other drugs. Acute hemorrhagic destruction of both adrenal glands can occur due to infection, trauma, anticoagulant therapy, antiphospholipid syndrome or a coagulation disorder. However, there have been no reports on acute hemorrhagic adrenal insufficiency due to the Ebstein-Barr virus (EBV). Herein, a case of acute adrenal insufficiency, with bilateral adrenal hemorrhagic infarction, is reported in a patient with asymptomatic chronic adrenal insufficiency. A 42-year-old man presented with general weakness, weight loss and hyperpigmentation of several months duration. He suffered from a sore throat, general myalgia and a headache on admission. The laboratory findings were lymphocytosis, positive EBV IgM antibody, low cortisol level and a high level of adrenocorticotropic hormone (ACTH). Adrenocortical autoantibody and PCR for Mycobacterium tuberculosis showed negative findings. The serologic findings for CMV and HIV were negative. Fine needle aspiration of the adrenal gland revealed a hemorrhagic infarction and positive staining for the anti-EBV antibody. Acute adrenal insufficiency was then diagnosed with a bilateral adrenal hemorrhagic infarction due to the EBV infection in the patient, also with asymptomatic chronic adrenal insufficiency. This is the first case of acute adrenal insufficiency with bilateral hemorrhagic infarction, due to an EBV infection
Influence of Anti-thyroglobulin Antibody on the Measurement of Thyroglobulin using the Immunoradiometric Assay.
Byeong Cheol Ahn, Jin Ho Bae, Shin Young Jeong, Ho Yong Park, Jung Guk Kim, Sung Woo Ha, Jaetae Lee, Bo Wan Kim, Kyu Bo Lee
J Korean Endocr Soc. 2004;19(1):42-47.   Published online February 1, 2004
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  • 22 Download
AbstractAbstract PDF
Serum thyroglobulin(Tg) is a valuable and sensitive tool needed in the follow-up of patients with differentiated thyroid cancer(DTC), but antithyroglobulin antibody(Anti-Tg), common in patients with DTC, can interfere with the assay for Tg. In this study, we evaluated the influence of Anti-Tg on the measurement of Tg using the immunoradiometric assay(IRMA). METHODS: In using ELSA-hTg in vivo test(CIS international, Schering, France), a solid phase two-site IRMA was used to measure Tg(23.5ng/mL, 62.5ng/mL) under the absence or presence of three concentrations of Anti-Tg(25U/mL, 50U/mL, 100U/mL). We also performed Tg measurement using patients serum that was mixed with patients serum containing high Anti-Tg. ANOVA and Scheffe tests were performed to evaluate the effect of Anti-Tg on Tg IRMA, and an inverse regression was made to calculate the level of Tg from measured Tg and used Anti-Tg levels and also to assess the degree of effect of anti-Tg on Tg IRMA. RESULTS: In measuring Tg using the standard solution, the presence of Anti-Tg resulted in a falsely suppressed Tg value. The IRMAs for 23.5ng/mL of the standard Tg solution resulted in 24.5+/-.1 ng/mL under no Anti-Tg, 11.8+/-.4ng/mL under 25U/mL of Anti-Tg, 7.7+/-.1ng/mL under 50U/mL of Anti-Tg, and 4.5+/-.4ng/mL under 100U/mL of Anti-Tg. IRMAs 62.5ng/mL of the standard Tg solution resulted in 65.9+/-.7ng/mL under no Anti-Tg, 36.3+/-.2ng/mL under 25U/mL of Anti-Tg, 23.7+/-.7ng/mL under 50U/mL of Anti-Tg, and 14.0+/-.0ng/mL under 100U/mL of Anti-Tg. (ANOVA test, p=0.000). The degree of suppression of the measured Tg value was positively correlated with the Anti-Tg level (Quadratic model regression, Sig T=0.000). The presence of Anti-Tg also resulted in a falsely suppressed Tg value for the Tg measurement using patient's serum. CONCLUSION: The presence of Anti-Tg could consist of the use of Tg as a tumor, therefore Anti-Tg should be measured in all patients diagnosed with DTC. The interpretation of the Tg level must be performed with extreme caution in patients with Anti-Tg.
Association of Polymorphism in beta3-Adrenergic Receptor Gene with Fat Distribution.
Tae Sung Yun, Yong Deuk Kim, Hye Soon Kim, Mi Jung Kim, Young Sung Suh, Jung Hyeok Kwon, Jin Soo Choi, Jung Guk Kim, Sung Woo Ha, Bo Wan Kim, Kyu Chang Won, Hyong Woo Lee, Ho Sang Shon, Ji Hyun Lee, Hyun Dae Yoon, Won Ho Kim, Young Gil Yun, In Kyu Lee
J Korean Endocr Soc. 2003;18(2):184-192.   Published online April 1, 2003
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AbstractAbstract PDF
Reasons for obesity include environmental factors and, more largely so, genetic factors. There have been many studies on these genetic factors. So far, genes related to obesity such as Leptin, Uncoupling Protein(UCP), Peroxisome proliferator activated receptor-gamma(PPAR-gamma), and Beta3-adrener-gic receptor(beta3-AR) gene have been discovered. Among these, beta3-AR is expressed in visceral adipose tissue and is thought to contribute to the regulation of resting metabolic rate and lipolysis. The missense mutation of beta3-AR gene, resulting in replacement of tryptophan by arginine at position 64(Trp64Arg), is associated with decreased resting metabolic rate and weightgain. We performed this study to determine if Trp64Arg polymorphism of beta3-AR gene is associatedwith obesity in Koreans. METHOD: We investigated the relationship between the beta3-AR gene mutation and body mass index (BMI), waist circumference, hip circumference, waist to hip ratio(WHR), area of subcutaneous fat, area of visceral fat, visceral to subcutaneous fat ratio(VSR), and lipid profile. 198 subjects were included in this study of which 97 were of normal weight and 101 were obese. Anthropometric data was obtained from physical examination and medical records. RESULT: In the cases of beta3-AR gene mutation of the obese group, the ratio of Trp/Arg and Arg/Arg are 43% and 5%, respectively, which were higher than the normal group(36%, 1%), although a statistical significant was not found. There was significant difference in the are of subcutaneous fat. Normal group(Trp/Trp) measured at 213.9+/-109.6cm2 versus 244.0+/-127.7cm2 (Trp/Arg) and 323.9+/-189.9cm2(Arg/Arg) for the mutation groups. Circumference of waist, circumference of hip, WHR, area of visceral fat, and VSR were higher in the mutation groups than in normal subject, but not significantly different. CONCLUSION: These results suggest that a genetic mutation in the beta3-AR gene can affect body fat composition, and is associated with obesity in Korean adults.
A Case of Calciphylaxis Mimicking Dermatomyositis.
Jeung Hun Han, Sin Won Lee, Gui Hwa Jung, Chang Hoon Choi, Soon Hee Lee, Jung Guk Kim, Sung Woo Ha, Jong Myung Lee, Nung Soo Kim, Bo Wan Kim
J Korean Endocr Soc. 2002;17(2):297-301.   Published online April 1, 2002
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AbstractAbstract PDF
Calciphylaxis is a rare, but fatal, condition that is characterized by a rapidly progressive ischemic necrosis of the skin, underlying tissue and other organs, as well as rapid vascular calcification. It results in death due to sepsis, heart or respiratory failure. A 67-year old female was admitted to hospital with the chief complaint of constant pain to both lower legs of 1 week duration. She was treated with calcitonin-salmon due to a prior unexplained hypercalcemia of 2 weeks. On the third day post admission. pain and weakness in the lower legs were aggravated, became painful, with violaceous skin lesions developing on the thigh with findings similar to those of rhabdomyolysis. Because she was suspected of having dermatomyositis, she was treated with methylpredrisolone. However, the skin lesions and symptoms were aggravated, and she died of sepsis due to a skin infection. About 160 cases of calciphylaxis have been reported, with most of these cases being associated with secondary hyperparathyroidism due to end-stage renal disease, but cases of calciphylaxis without renal failure are very rare. We now report a case of calciphylaxis without renal failure, mimicking dermatomyositis, and present a brief review of the pathophysiology and treatments of calciphylaxis inform the relevant literature.
A Case of Functioning Paraganglioma in Posterior Mediastinum.
Chang Hoon Choi, Sin Won Lee, Gui Hwa Jung, Si Hyung Park, Soon Hee Lee, Jung Guk Kim, Sung Woo Ha, Bo Wan Kim, Sang Chul Lee, Eung Bae Lee, Tae In Park
J Korean Endocr Soc. 2002;17(2):292-296.   Published online April 1, 2002
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AbstractAbstract PDF
Paraganglioma is an extraadrenal pheochromocytoma originating from chromaffin cells distributed in the sympathetic nervous systems. Functioning extraadrenal paragangliomas represent more than 10% of all pheochromocytomas, and seems to be highly malignant tumor in comparison to intraadrenal pheochromocytomas. Recently, we experienced a case of a paraganglioma in the posterior mediastinum. A 32-year-old woman was admitted to hospital due to dyspnea on exertion, and intractable hypertension. A chest X-ray showed a well-defined mass density on the right cardiac border, and biochemical studies showed characteristic findings of pheochromocytoma. A solitary pheochromocytoma was located in the posterior mediastinum using 131I-MIBG scintigraphy. The clinical manifestations, including hypertension and dyspnea were improved after operation.
Two Cases of Autoimmune Insulin Syndrome with Hypoglycemia.
See Hyung Park, Shin Won Lee, Gui Hwa Jeong, Chang Hoon Choi, Soon Hee Lee, Jeung Hoon Han, Jeong Guk Kim, Seong Woo Ha, Bo Wan Kim
J Korean Endocr Soc. 2001;16(4-5):508-513.   Published online October 1, 2001
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AbstractAbstract PDF
Autoimmune insulin syndrome is characterized by insulin autoantibody, hyperinsulinemia, and fasting hypoglycemia without previous insulin immunization. This syndrome shows discordant levels between immunoreactive insulin and C-peptide. Negative results of an anatomic study of the pancreas and an inability to reproduce hypoglycemia during a prolonged fast may be helpful in excluding insulinoma. Symptomatic hypoglycemia usually develops during an oral glucose tolerance test. This syndrome is a self-limited disorder. Recently, we experienced one case that developed symptomatic hypoglycemia during both the fasting & oral glucose tolerance test, and another that developed symptomatic hypoglycemia during the oral glucose tolerance test but not the fasting test. Hereby, we present these cases with a review of the literature.
New Mutation Site in Vasopressin V2 Receptor Gene in a Family with Congenital Nephrogenic Diabetes Incipidus.
Soon Hee Lee, Chang Hoon Choi, See Hyung Park, Young Sun Choi, Jeong Gook Kim, Seung Woo Ha, Bo Wan Kim
J Korean Endocr Soc. 2000;15(1):97-106.   Published online January 1, 2001
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AbstractAbstract PDF
Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder, in which two different hereditary forms, X-linked and autosomal recessive traits, have been identified. The X-linked recessive form, mostly (>90%) congenital NDI, has been known to be caused by mutation of the arginine-vasopressin receptor 2 (AVPR2) gene. AVPR2 mutation sites are different in ethnic groups and recently 72 different mutation sites have been reported among AVPR2 gene. This study aimed to analyze AVPR2 gene in selected members in a Korean family with NDI and provided a report of the existence of a new mutation site in AVPR2 gene. METHODS: Three-generation maternal pedigree of the index patient (21-year old male, patient I) and his younger brother (19-year old male, patient II) with NDI was collected. Genomic DNA was obtained from patient I, II, III (index patient's male maternal cousin with NDI), index patient's mother, three maternal aunts, one female maternal cousin and, for control, one healthy male volunteer. Three coding exons of AVPR2 gene were amplified by PCR using 4 pairs of oligonucleotide primers. After direct sequencing of amplified PCR products, the sequence was compared with whole squence of normal AVPR2 gene and identification of a new site of mutation in this gene was done. RESULTS: 1) all three male patients had transversion of G to C at position 1033 of the AVPR2 gene, resulting in a subsequent change of amino acid from glycine to cysteine in codon 201. 2) Two small peaks of G and T, the result of direct sequencing in five female members in this family, would suggest that they are carriers of G to N transversion. CONCLUSION: These results can demonstrate the significant functional correlation of the mutation in AVPR2 gene sequence with clinical NDI, and suggest the clinical utility of direct mutation testing for congenital NDI in family.
A Case of McCunt-Albright Syndrome Associated with Acremegaly and Fibrous Dysplasia.
Jung Guk Kim, Sung Woo Ha, Sang Won Chung, Seong Mo Koo, Jae Tae Lee, Kyu Bo Lee, Yong Sun Kim, Sam Kwon, Bo Wan Kim
J Korean Endocr Soc. 1998;13(1):108-114.   Published online January 1, 2001
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AbstractAbstract PDF
Acromegaly and hyperprolactinemia have been described in association with polyostotic fibrous dysplasia. The pathogenic mechanisms of this endocrinopathy are not clear. We experienced a 19-year-old male with hypersecretion of GH, hyperprolactinemia and fibrous dysplasia. He was referred for evaluation of suspected acromegaly. He had no skin pigmentation. Plasma GH, PRL, somatomedin-C, LH, FSH, testosterone, estradiol, progesterone, T3, T4, TSH and cortisol were measured. Among those, the levels of plasma GH, PRL and somatomedin-C were high. Serum alkaline phosphatase was increased. OGTT did not suppress plasma OH concentration and GH showed paradoxical response to TRH and LHRH. GH was suppressed after a test-dose of somatastatin and bromocriptine. Brain MRI demonstrated a mass lesion in sella turcica and another mass lesions in nasal cavity and posterior occipital bone. Whole body bone scan revealed increased uptake in skull, nasal bone, both 9th posterior rib, both femurs, both tibias, left scapular and pelvic bone. These fmdings were consistent with bone tumor such as fibrous dysplasia. We report a case with incomplete MeCune-Albright syndrome including acromegaly, hyperprolactinemia and polyostotic fibrous dysplasia.
A Case of Thyroid Papillary Cancer Derived from Diffuse Goiter in a Patients with Acromegaly.
Dong Hee Kim, Jick Hwa Nam, Byoung Ho Sin, Ye Kyung Seo, Jung Guk Kim, Sung Woo Ha, Bo Wan Kim, Young Ha Lee, In Su Seo
J Korean Endocr Soc. 1996;11(3):311-317.   Published online November 7, 2019
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AbstractAbstract PDF
Patients with acromegaly have a reduced life expectancy rnainly due to cardiovascular, respiratory or cerebrovascular diseas-. Malignancy also seems to occur with greater than the expected incidence. In particular, the published retrospective or prospective studies have suggested a strong association of colonic neoplasia with acromegaly. But, there were a few reports of thyroid cancer in acrornegaly. We report a case of thyroid papillary cancer derived from diffuse goiter in acromegaly, sugge- sting the possible carcinogenic role of growth hormone.

Endocrinol Metab : Endocrinology and Metabolism