Takako Takeuchi, Y. Yoto, T. Tsugawa, H. Kamasaki, A. Kondo, J. Ogino, T. Hasegawa, N. Yama, Sawa Anan, S. Uchino, A. Ishikawa, A. Sakurai, H. Tsutsumi
{"title":"An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene","authors":"Takako Takeuchi, Y. Yoto, T. Tsugawa, H. Kamasaki, A. Kondo, J. Ogino, T. Hasegawa, N. Yama, Sawa Anan, S. Uchino, A. Ishikawa, A. Sakurai, H. Tsutsumi","doi":"10.1297/cpe.24.185","DOIUrl":null,"url":null,"abstract":"Abstract. A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"185 - 189"},"PeriodicalIF":1.2000,"publicationDate":"2015-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.24.185","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 4
Abstract
Abstract. A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma.
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