- A Case of Calciphylaxis Mimicking Dermatomyositis.
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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
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J Korean Endocr Soc. 2002;17(2):297-301. Published online April 1, 2002
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- 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.
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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
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J Korean Endocr Soc. 2002;17(2):292-296. Published online April 1, 2002
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- 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.
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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
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J Korean Endocr Soc. 2001;16(4-5):508-513. Published online October 1, 2001
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- 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.
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Soon Hee Lee, Chang Hoon Choi, See Hyung Park, Young Sun Choi, Jeong Gook Kim, Seung Woo Ha, Bo Wan Kim
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J Korean Endocr Soc. 2000;15(1):97-106. Published online January 1, 2001
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- BACKGROUND
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.
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