Surgery unit, university of Padova, Padova, Italy.
Ann Endocrinol (Paris). 2012 Jun;73(3):230-2. doi: 10.1016/j.ando.2012.03.037. Epub 2012 Apr 12.
We report here a case of a paediatric hyperthyroidism due to a micro-macro-follicular thyroid adenoma in the presence of heterozygous point mutation of TSH receptor (TSHr). We describe the case from the initial diagnosis, through laboratoristic examinations and imaging techniques, until the radical surgical treatment made by a mini-cervicotomic videoassisted technique. We also explained the genetic work-up from peripheral blood and thyroid adenoma tissue.
我们在此报告一例儿童甲状腺功能亢进症，病因是 TSH 受体（TSHr）杂合点突变导致的微巨滤泡甲状腺腺瘤。我们从最初诊断开始描述该病例，包括实验室检查和影像学技术，直至采用迷你经颈视频辅助技术进行根治性手术治疗。我们还解释了外周血和甲状腺腺瘤组织的基因检测结果。
