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Pendred 증후군 환자에서 발생한 갑상선 여포암 1예
임승길,정지영,신성재,박소영,이시훈,김유미,이유미,홍순원,차봉수,안철우,김경래,김소헌,이현철 대한내분비학회 2004 Endocrinology and metabolism Vol.19 No.4
Pendred 증후군은 상염색체 열성으로 유전되는 드문 질환으로 선천성 감각신경성 난청, 갑상선 종대, perchlorate 방출검사시 양성 소견을 특징으로 한다. Pendred 증후군에서 갑상선 여포암이 발생한 경우가 드물게 보고되어 있으나 국내에서는 아직까지 보고된 바 없었다. 저자들은 33세 남자 Pendred 증후군 환자에서 발생한 갑상선 여포암 증례를 경험하였기에 이를 보고하는 바이다. 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
임승길,김경래,정윤석,이경미,김동익,김현만,이현철,이은직,안광진,김덕희,윤도훔,박용구,김영수,정상섭,이규창,정우희,김태승,허갑범 대한내분비학회 1992 Endocrinology and metabolism Vol.7 No.4
TSH secreting pituitary adenoma is a rare disorder and represents about 1% of all pituitary adenomas. About 80 cases have so far been reported. We experienced four cases of TSH secreting pituitary adenoma. Three of them were macroadenomas and 1 was microadenoma. Serum TSH levels varied between 4.1~185.6 uIU/ml. The serum -subunit levels of two patients tested were slightly elevated (0.87, 0.96 mIU/ml). Serum TSH and -subunit response to TSH, dexamethasone, T3, bromocriptine, and octreotide were variable when studied. Three patients underwent transsphenoidal microsurgery. One of them received radiotherapy. They were cured. Treatment with octreotide in 1 patient who did not received surgery resulted in normalization of serum TSH and thyroid hormone levels and reduction in tumor size. (J Kor Soc Endocrinol 7:331~342, 1992)