Thyroid disease in children with PTEN hamartoma tumor syndrome

PTEN genetic variants and associated thyroid phenotypes in 64 subjects with PTEN hamartoma tumor syndrome diagnosed prior to 19 years of age. Variants were classified according to American College of Medical Genetics and Genomics criteria. Neurological findings were abstracted from the medical record. Thyroid nodules were assessed by thyroid ultrasound. Thyroid autoimmunity was assessed by measurement of serum thyroid autoantibodies. Institutional Review Board approval was obtained prior to the study.

本数据集纳入64名19岁前确诊为PTEN错构瘤肿瘤综合征（PTEN hamartoma tumor syndrome）的受试者，收录其PTEN遗传变异及相关甲状腺表型信息。所有变异均按照美国医学遗传学与基因组学学会（American College of Medical Genetics and Genomics）制定的标准进行分类。神经系统相关临床表型数据从受试者病历中提取。甲状腺结节通过甲状腺超声检查进行评估。甲状腺自身免疫状态通过检测血清甲状腺自身抗体完成评估。本研究开展前已获得机构审查委员会（Institutional Review Board）的批准。