- A Case of Wolfram Like Disorder with Type 2 Diabetes Mellitus in an Adult.
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Sung Uk Choi, Soo Kyung Bae, Hyun Soo Kim, Kyung Rok Kim, Ki Hwan Hur, Sung Hyup Lim, Young Ae Hong, Sung Chang Chung
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Endocrinol Metab. 2010;25(2):131-134. Published online June 1, 2010
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DOI: https://doi.org/10.3803/EnM.2010.25.2.131
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- Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy, and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene.
- Aldosterone-Producing Adenoma Diagnosed by Selective Adrenal Venous Catheterization.
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Sung Kil Lim, Young Duk Song, Hyun Chul Lee, Kap Bum Huh, Min Kyung Song, Hyun Soo Kim, Kyung Rae Kim, Seok Won Park, Yoo Mi Lee, Yong Suk Yoon, Suk Ho Kwon, Jae Hyun Nam, Sul Hye Han, Do Yeon Lee
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J Korean Endocr Soc. 1998;13(4):652-658. Published online January 1, 2001
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- Primary aldosteronism, not a common cause of high blood pressure, is a syndrome which results from excessively secreted aldosterone from adrenal gland and it accounts for 0.05-2.2% of unselected hypertension. In this case the lesion was not visualized on routine abdominal computed tomographic scan due to its small size. Therefore the selective adrenal venous catherterization & venous sampling was done. As there is some difficulty of sampling from Rt. adrenal vein, the method of measuring aldosterone vs. cortisol ratio of Lt. adrenal vein and inferior vena cava was used to localize the aldosterone-producing adenoma. Clinical symptoms normalized and laboratory data returned to normal range after the surgical adrenalectomy.
- A Case of non-islet Cell Tumor Hypoglycemia Due to Gepatoma-increased serum subfraction of big insulin-like growth factor II.
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Kwan Woo Lee, Hyun Soo Kim, Yun Suk Chung, Hyun Man Kim, Myung Ho Yoon, Joon Ho Ko, Hyo Chul Kim, Young Soo Kim, Sung Won Cho
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J Korean Endocr Soc. 1997;12(4):667-671. Published online January 1, 2001
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- Hypoglycemia due to non-islet cell tumor is usually associated with hypersecretion of big insulin-like growth factor II (IGF-II). This big IGF-II cannot form ternary IGF complex, and is biologically more active in peripheral tissue, inducing increased glucose utilization and hypoglycemia. A 57-year-old man developed severe hypoglycemia due to hepatocellular carcinoma. To control hypoglycemia, the patient required continuous glucose infusion. The circulating levels of cortisol and free T4 were in the normal range. The plasma levels of insulin, C-peptide, IGF-I, IGF binding protein-3 (IGFBP-3), and total IGF-II levels were decreased. Radioimmunoassay of IGF-II revealed that big IGF-II immunoreactivity markedly increased compared to that of normal control. In this patient, it was strongly suggested that big IGF-II might be a cause of severe intractable hypoglycemia.
- A Case of Central Diabetes Insipidus Caused by Metastatin Malignant Lymphoma.
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Sung Kil Lim, Young Duk Song, Hyun Chul Lee, Kap Bum Huh, Hyun Soo Kim, Kyung Rae Kim, Yoo Mi Lee, Yong Suk Yoon, Suk Ho Kwon, Jae Hyun Nam, Sang Hak Lee
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J Korean Endocr Soc. 1997;12(4):596-601. Published online January 1, 2001
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- The causes of central diabetes insipidus (CDI) are numerous; some primary cases are idiopathic while most secondary cases are surgically induced or the result of tumor. The frequency of metastatic tumor as a cause of DI is 6% to 20% of cases, Variety of malignancies including breast, lung, colon, prostate cancer, and leukemia/lymphoma have been reported to metastasize to the pituitary, although most patients are asymptomatic. Clinical manifestations of pituitary metastases include anterior pituitary failure, visual disturbance, and extraocular muscle weakness. DI is the most common clinical manifestation of hypothalamic-pituitary axis (HPA) metastases. Anatomical basis far this clinical picture is that most metastases occur in the posterior lobe. We report on a 35-year-old male patient with meningeal involvement of malignant lymphoma that was thought to be associated with DI. Confirmation of primary malignancy was made by biopsy at site of cervical lymph node and tonsil, Pituitary involvement was suspected on brain MRI, and satisfactory symptornatic relief was obtained with vasopressin. Because of the progres-sion of underlying lymphorna that has shown no response to combined anticancer chemotherapy, the patient expired on 60th hospital day.
- A Case of Methimazole Induced Agranulocytosis Treated with Granulocyte Colony Stimulating Factor ( G-CSF ).
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Kwan Woo Lee, Yoon Sok Chung, Hyeon Man Kim, So Yeon Choi, Min Kyung Song, Hyun Soo Kim, Hee Sun Jeon
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J Korean Endocr Soc. 1997;12(1):68-74. Published online January 1, 2001
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- A 31-year-old woman admitted because of fever, chilling and sore throat for 4 days. The symptom was developed after receiving methimazole 20mg per day and carteolol 10mg per day due to Graves disease during last 4 weeks. Physical examination revealed hyperemic enlarged tonsils with whitish plaque. The peripheral blood total neutrophil count was 1,400/mm3 (absolute neutrophil count, ANC 36) and a peripheral blood smear revealed rare neutrophil with lymphocytosis. On the first day of hospitalization, the patient was severely ill with ANC 0, it was decided to administer G-CSF 2ug/kg daily. On the fifth day of hospitalization, ANC in peripheral blood count was persistently zero and bone marrow aspiration and biopsy were performed, which revealed hypocellularity and myeloid hypoplasia. G-CSF given daily for 7days, it was discontinued when the ANC reached 1,539/mm3. The availability of G-CSF may help to shorten the course of agranulocytosis and to reduce its mortality rate.
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