Sasivari Zerin, Szinnai Gabor, Seebauer Britta, Konrad Daniel, Lang-Muritano Mariarosaria
Department of Paediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.
Department of Paediatric Endocrinology and Diabetology, University Children's Hospital, Basel, Switzerland.
J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1299-1303. doi: 10.1515/jpem-2019-0051.
Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations. Ultrasound scan revealed a properly structured thyroid gland. Treatment with L-thyroxine was initiated. At the age of 2 years, thyroxine replacement was stopped. The patient remained untreated until 6 years of age when TSH levels progressively increased and L-thyroxine treatment was restarted at a dose of 12.5 μg/day. Genetic analysis revealed a double heterozygosity for likely pathogenic variants of dual oxidase 2 (DUOX2) and thyroid stimulating hormone receptor (TSHR). Both genes were earlier shown to be associated with CH. In a literature review, our patient was compared to previously published patients with similar clinical characteristics, and a good genotype-phenotype correlation was identified.
甲状腺激素合成障碍（TDH）的特征是甲状腺激素合成存在缺陷。我们报告了一名先天性甲状腺功能减退症（CH）患者，该患者在新生儿筛查中表现为血清促甲状腺激素（TSH）升高、游离甲状腺素（fT4）降低和甲状腺球蛋白（Tg）浓度升高。超声扫描显示甲状腺结构正常。开始使用左甲状腺素进行治疗。2岁时停用甲状腺素替代治疗。该患者一直未接受治疗，直到6岁时TSH水平逐渐升高，才重新开始使用左甲状腺素治疗，剂量为12.5μg/天。基因分析显示双氧化酶2（DUOX2）和促甲状腺激素受体（TSHR）可能存在致病性变异的双重杂合性。这两个基因此前已被证明与CH有关。在一篇文献综述中，将我们的患者与先前发表的具有相似临床特征的患者进行了比较，并确定了良好的基因型-表型相关性。
