Shugar Andrea L, Shapiro Jessica M, Cytrynbaum Cheryl, Hedges Stephanie, Weksberg Rosanna, Fishman Leona
Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Am J Med Genet A. 2015 Jul;167(7):1560-4. doi: 10.1002/ajmg.a.37064. Epub 2015 May 5.
We reviewed the health records of pediatric patients with 22q11.2 deletion syndrome (22q11.2 DS) seen over a 5-year period in our 22q11.2 DS multidisciplinary clinic. We determined the prevalence of thyroid dysfunction in this population, in comparison to general population data. Statistical tests were applied to investigate trends in gender differences, thyroid disease subtype and co-morbid conditions in the patients identified with thyroid disease. Of 169 subjects (92 male, 77 female) 9.5% had overt thyroid disease; of these, 1.8% had hyperthyroidism and 7.7% had hypothyroidism; 42% of patients with subclinical or prodromal thyroid disease progressed to overt disease. Our data indicate that thyroid disease prevalence in the 22q11DS pediatric population is significantly higher than that in the general pediatric population Furthermore, over 1/3 of patients in our study population who presented with subclinical thyroid disease progressed to overt disease, requiring medical therapy. Thyroid disease screening should be incorporated into routine medical management of children with 22q11.2 DS. Guidelines for screening individuals with 22q11.2 DS are presented.
我们回顾了在我们的22q11.2缺失综合征（22q11.2 DS）多学科诊所5年期间诊治的患有22q11.2缺失综合征的儿科患者的健康记录。与一般人群数据相比，我们确定了该人群中甲状腺功能障碍的患病率。应用统计测试来研究甲状腺疾病患者的性别差异、甲状腺疾病亚型和共病情况的趋势。在169名受试者（92名男性，77名女性）中，9.5%患有显性甲状腺疾病；其中，1.8%患有甲状腺功能亢进，7.7%患有甲状腺功能减退；42%的亚临床或前驱甲状腺疾病患者进展为显性疾病。我们的数据表明，22q11DS儿科人群中甲状腺疾病的患病率显著高于一般儿科人群。此外，在我们的研究人群中，超过1/3的亚临床甲状腺疾病患者进展为显性疾病，需要药物治疗。甲状腺疾病筛查应纳入22q11.2 DS患儿的常规医疗管理中。本文给出了22q11.2 DS个体的筛查指南。
