- Adrenal gland
- Genetic Analysis of Multiple Endocrine Neoplasia Type 1 (MEN1) Leads to Misdiagnosis of an Extremely Rare Presentation of Intrasellar Cavernous Hemangioma as MEN1
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Dong Min Lee, Seung Hee Yu, Hyun Hwa Yoon, Kang Lock Lee, Young Sil Eom, Kiyoung Lee, Byung-Joon Kim, Yeun Sun Kim, Ie Byung Park, Kwang-Won Kim, Sihoon Lee
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Endocrinol Metab. 2014;29(2):146-153. Published online June 26, 2014
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DOI: https://doi.org/10.3803/EnM.2014.29.2.146
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Abstract
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- Background
Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above. MethodsA 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma) 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending into the sellar region. It was thought to be a nonfunctioning tumor from the results of the combined pituitary function test. Incidentally, we found that she also had a pancreatic tumor, indicating the necessity of genetic analysis for MEN1. ResultsGenomic analysis using peripheral leukocytes revealed a heterozygous c.1621G>A mutation in the MEN1 gene that was previously reported to be either a pathogenic mutation or a simple polymorphism. We pursued a stereotactic approach to the pituitary lesion, and microscopic findings of the tumor revealed it to be an intrasellar cavernous hemangioma, a rare finding in the sellar region and even rarer in relation to oculomotor palsy. The patient recovered well from surgery, but refused further evaluation for the pancreatic lesion. ConclusionThere is great emphasis placed on genetic testing in the diagnosis of MEN1, but herein we report a case where it did not assist in diagnosis, hence, further discussion on the role of genetic testing in this disease is needed. Also, in cases of pituitary tumor with cranial nerve palsy, despite its low prevalence, intrasellar cavernous hemangioma could be suspected.
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Citations
Citations to this article as recorded by
- Diffuse cavernous hemangioma of the skull misdiagnosed as skull metastasis in breast cancer patient: one case report and literature review
Huizhi Liu, Xiaojing Chang, Hua Shang, Feng Li, Huandi Zhou, Xiaoying Xue BMC Cancer.2019;[Epub] CrossRef - Articles in 'Endocrinology and Metabolism' in 2014
Won-Young Lee Endocrinology and Metabolism.2015; 30(1): 47. CrossRef
- Two Case of Primary Aldosteronism Induced by Aldosterone Producing Adrenal Adenoma in a Family.
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Young Rock Jang, Sei Hyun Kim, Young Sil Eom, Ki Young Lee
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Endocrinol Metab. 2012;27(4):329-333. Published online December 20, 2012
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DOI: https://doi.org/10.3803/EnM.2012.27.4.329
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- Primary aldosteronism, is defined as a group of disorders characterized by the excess of aldosteron, with suppressed rennin activity, resulting in hypertension and hypokalemia. In most cases, primary aldosteronism is sporadic due to a unilateral adrenal adenoma or bilateral adrenal hyperplasia. Familial hyperaldosteronism is a rare cause of primary aldosteronism and its prevalence has not been established well. We describe two cases of primary aldosteronism in a family involving a sister and brother due to an aldosterone producing adenoma in the left adrenal gland. Their hypokalemia and hypertension were cured by complete resection of the adrenal adenoma. Genetic analyses could not be done because of patients' rejection.
- A Case of the Type B Insulin Resistance Syndrome with Chronic Hepatitis B.
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Hyun Seok Choi, Byoung Ho Choi, Seok Hoo Jeong, Shung Han Choi, Dong Su Shin, Sei hyun Kim, Young Sil Eom, Sihoon Lee, Yeun Sun Kim, Ie Byung Park, Ki Young Lee
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Endocrinol Metab. 2011;26(4):360-363. Published online December 1, 2011
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DOI: https://doi.org/10.3803/EnM.2011.26.4.360
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- Type B insulin resistance syndrome is rare autoimmune disease that is characterized by various abnormalities of glycemic homeostasis, from hyperglycemia caused by extreme insulin resistance to fasting hypoglycemia. It can combine with other autoimmune diseases, most commonly systemic lupus erythematosus. It usually occurs in women and accompanies acanthosis nigricans, hyperandrogenism, and, in many cases, ovary dysfunction. The diagnosis of type B insulin resistance syndrome is based largely on the presence of insulin receptor autoantibodies and hyperglycemia, or hypoglycemia and hyperinsulinemia. In some cases, patients with the type B insulin resistance have been successfully treated with immunosuppressive therapy and plasmapheresis. We experienced type B insulin resistance syndrome in a patient with chronic hepatitis B and used only plasmapheresis for treatment. The immunosuppressive therapy was omitted due to the state of activation of chronic hepatitis B. We present this case with a review of relevant literature.
- Laparoscopically Resected Composite Pheochromocytoma-Ganglioneuroma.
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Na Rae Kim, Taeeun Kim, Jeong Nam Lee, Young Sil Eom, Dong Hae Chung, Sanghui Park, Hyun Yee Cho
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Endocrinol Metab. 2011;26(4):340-344. Published online December 1, 2011
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DOI: https://doi.org/10.3803/EnM.2011.26.4.340
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2,143
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- Composite pheochromocytoma-ganglioneuroma is one of the mixed neuroendocrine-neural tumors composed of pheochromocytoma and other neural crest derivatives. To date, less than 50 cases of composite pheochromocytoma have been reported, and about 70% of the accompanying tumors were ganglioneuromas. Here, we describe six cases of composite pheochromocytoma-ganglioneuromas in five men and one woman, aged 33 to 64. The size of the tumors ranged from 3.0 to 11.0 cm, and four out of the six presented with intermittent onset of hypertension, palpitation, or dizziness. Microscopically, each tumor was composed of large pleomorphic shaped chromaffin cells arranged in the Zellballen patterns characteristic of pheochromocytoma, and they were mixed with clusters of mature ganglion cells and bundles of spindle-shaped Schwann cells characteristic of ganglioneuroma of variable proportions. All were successfully treated laparoscopically, and none were associated with multiple endocrine neoplasm syndrome or neurofibromatosis. Preoperative diagnosis of a composite pheochromocytoma-ganglioneuroma is impossible because of the low incidence rate, and the radiological findings and symptoms are similar to those of typical pheochromocytomas. Although the significance of microscopic detection of the nonpheochromocytoma component from pheochromocytoma has not yet been clarified, microscopic identification of the composite pheochromocytoma-ganglioneuroma is important because cumulative cases are used in an effort to predict the behavior of this composite tumor.
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Citations
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- Imaging of rare medullary adrenal tumours in adults
C.A. Maciel, Y.Z. Tang, G. Coniglio, A. Sahdev Clinical Radiology.2016; 71(5): 484. CrossRef
- A Case of Ascites and Extensive Abdominal Distension Caused by Reversible Pulmonary Arterial Hypertension Associated with Graves' Disease.
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Byoungho Choi, Young Sil Eom, Sei Hyun Kim, Hyun Seok Choi, Wook Jin Chung, Sihoon Lee
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Endocrinol Metab. 2011;26(3):248-252. Published online September 1, 2011
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DOI: https://doi.org/10.3803/EnM.2011.26.3.248
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1,911
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- Patients with hyperthyroidism can develop left ventricular dysfunction and heart failure, but severe pulmonary hypertension association with hyperthyroidism is rarely seen. Herein, we describe the case of a 27-year-old female who presented with abdominal distension accompanied by pulmonary arterial hypertension and Graves' disease. Her pulmonary arterial hypertension was improved by treating the hyperthyroidism and pulmonary artery hypertension. Additionally, the patient's symptoms of right-side heart failure improved after pulmonary arterial pressure was reduced. Hyperthyroidism should be regarded as a reversible cause of associated pulmonary arterial hypertension.
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Citations
Citations to this article as recorded by
- A Case of Pulmonary Hypertension Recurred by Graves’ Disease
Jun Seop Lee, Young Sik Choi, Jae Woo Lee, Jin Seok Yoo, Youn Jung Choi, Dong Hyun Park Kosin Medical Journal.2013; 28(2): 171. CrossRef
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