METHODS: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate. A partial organification defect was detected through the perchlorate-induced iodide discharge test. NGS identified a novel homozygous mutation in exon 18 of the SLC26A7 gene (P628Qfs*11), which encodes for a new iodide transporter. This variant is predicted to result in a truncated protein. Notably, the patient\'s euthyroid brother was heterozygous for the same mutation. No renal acid-base abnormalities were found and the administration of 1 mg of iodine failed to correct hypothyroidism.
CONCLUSIONS: We described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.
方法:患者18岁时出现甲状腺肿。重要的是,他没有智力低下的迹象,他的成长是相称的。通过高氯酸盐诱导的碘化物放电测试检测到部分有机化缺陷。NGS在SLC26A7基因(P628Qfs*11)的第18外显子中发现了一个新的纯合突变,编码一种新的碘化物转运蛋白。预测该变体产生截短的蛋白质。值得注意的是,患者的甲状腺功能正常的兄弟是相同突变的杂合子。未发现肾脏酸碱异常,服用1mg碘未能纠正甲状腺功能减退。
结论:我们描述了由于在青春期后期诊断的SLC26A7基因纯合突变导致的第一例甲状腺肿性CH。