Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2015
An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene.
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Takeuchi Takako, Yoto Yuko, Tsugawa Takeshi, Kamasaki Hotaka, Kondo Atsushi, Ogino Jiro, Hasegawa Tadashi, Yama Naoya, Anan Sawa, Uchino Shinya, Ishikawa Aki, Sakurai Akihiro, Tsutsumi Hiroyuki
Аннотация
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.