- A Case of Silent Corticotroph-cell Adenoma with Elevated Serum ACTH.
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Jeong Geun Moon, So Young Park, Byoung Chul Cho, Jung Min Lee, Si Hoon Lee, Yoo Mee Kim, Yu Mie Rhee, Bong Soo Cha, Hyun Chul Lee, Sung Kil Lim
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J Korean Endocr Soc. 2004;19(5):535-541. Published online October 1, 2004
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- A 48 year-old man was referred to our Department with a headache, and also presented with an elevated serum ACTH level, but without an elevated serum cortisol. Although there was no clinical evidence of Cushing's syndrome, a brain CT and MRI showed a 4x4.5 cm sized pituitary mass, which was successfully removed by a transsphenoidal approach (TSA). A histopathological examination revealed the mass to have an ACTH positive reaction. Therefore, through hormonal and pathological evaluation, a silent corticotroph-cell adenoma (SCCA), with an elevated serum ACTH level, was diagnosed. Although reports on SCCA have been recently increased, this case is reported because these kinds of tumor are still rare, and those SCCA with an elevated serum ACTH even more so
- A Case of Follicular Thyroid Carcinoma Developed in Pendred Syndrome.
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So Hun Kim, Ji Young Jung, Sung Jae Shin, So Young Park, Si Hoon Lee, Yoo Mee Kim, Yu Mie Rhee, Soon Won Hong, Bong Soo Cha, Chul Woo Ahn, Kyung Rae Kim, Sung Kil Lim, Hyun Chul Lee
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J Korean Endocr Soc. 2004;19(4):411-418. Published online August 1, 2004
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- Pendred syndrome is an autosomal recessive genetic disorder, which is characterized by sensorineural hearing loss, goiter and a positive perchlorate discharge test. It is caused by mutations of the PDS gene, and its clinical characteristics vary widely. The thyroid function in most cases is normal, or shows only mild hypothyroidism. In Pendred syndrome, there is an organification defect that leads to defective thyroid hormone synthesis, followed by chronic TSH stimulation. Herein is reported a case of a follicular thyroid carcinoma associated with Pendred syndrome. To our knowledge, this is the first case reported in Korea. The patient presented with a huge anterior neck mass, sensorineural hearing loss and a positive perchlorate discharge test. Fine needle aspiration cytology suggested malignancy of the thyroid, and a total thyroidectomy, with central compartment node dissection, was performed. The pathology from the thyroid mass showed a poorly differentiated follicular thyroid carcinoma
- A Case of Thyroid Papillary Cancer Associated with Familial Adenomatous Polyposis.
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Sung Jae Shin, Hyun Joo Lee, So Hun Kim, Wan Sub Shim, Sihoon Lee, Yoo Mee Kim, Yumie Rhee, Tae Il Kim, Bong Soo Cha, Hyun Chul Lee, Sung Kil Lim
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J Korean Endocr Soc. 2004;19(2):209-216. Published online April 1, 2004
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- Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome, typically characterized by multiple colorectal adenomas and increased incidence of colorectal carcinomas if left untreated. It is caused by germline mutations of the adenomatous polyposis coli (APC) gene, which has been mapped on chromosome 5q21, and is accompanied by various benign and malignant extracolonic manifestations. The prevalence of thyroid tumors developing in patients with FAP is about 1~2%, are associated with FAP and have certain characteristics; mean age of tumor diagnosis at less than 30 years of age, the pathology is the papillary histiotype in more than 90% of cases, including a so-called cribriform- morular pattern, and multifocality is a frequent feature. In a genetic analysis, thyroid cancer in FAP usually has a mutation in the 5-portion of exon 15 between 778 and 1309, on chromosome 5q21. Also, the ret/PTC (especially ret/PTC1 and ret/PTC3) and p53 genes are thought probably to be associated with thyroid cancer in FAP patients. A case of familial adenomatous polyposis, accompanied by thyroid papillary cancer, was experienced in a 29 year-old female. She had hundreds of adenomas throughout the entire colon and congenital hypertrophy of the retinal pigment epithelium (CHRPE). The pathological finding of thyroid cancer was revealed as a mixture of cribriform, trabecular and papillary patterns. In a genetic analysis, she and her brother had a germline mutation of the APC gene at codon 1309. In Korea, there has been no previous case of cribriform-morular pattern and familial genetic analysis in FAP associated with thyroid cancer. Therefore, this case is reported, with a review of the literature
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