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Abstract：
We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous mutation of the TPO gene. She underwent total thyroidectomy at the age of seven years because of the development of a multinodular goiter. BRRS patients present an increased risk of benign and malignant thyroid disease since childhood because of inactivating mutation of PTEN, an onco-suppressor gene. Instead, homozygous mutations in the TPO gene can be associated with severe forms of hypothyroidism with goiter; previous studies have described cases of follicular and papillary thyroid cancer in CH patients with TPO mutation despite a perfectly controlled thyroid function with Levothyroxine therapy. To our knowledge, this is the first case that describes the possible synergic role of coexisting mutation of both TPO and PTEN in the development of multinodular goiter underlining the importance of a tailored surveillance program in these patients, especially during childhood.
摘要：
我们报告了一例患有Bannayan-Riley-Ruvalcaba综合征（BRRS）和先天性甲状腺功能减退症（CH）的儿科女性患者，其TPO基因纯合突变。由于多结节性甲状腺肿的发展，她在7岁时接受了全甲状腺切除术。由于PTEN的失活突变，BRRS患者从小就出现良性和恶性甲状腺疾病的风险增加，一种抑癌基因.相反，TPO基因的纯合突变可能与甲状腺功能减退伴甲状腺肿的严重形式有关；先前的研究已经描述了尽管左旋甲状腺素治疗可以完全控制甲状腺功能，但具有TPO突变的CH患者的滤泡性和乳头状甲状腺癌病例。据我们所知,这是描述TPO和PTEN共存突变在多结节性甲状腺肿发展中可能的协同作用的第一个案例，强调了在这些患者中量身定制的监测计划的重要性，尤其是在童年。
