Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Laboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.
Ital J Pediatr. 2024 May 29;50(1):106. doi: 10.1186/s13052-024-01672-3.
In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter.
The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate. A partial organification defect was detected through the perchlorate-induced iodide discharge test. NGS identified a novel homozygous mutation in exon 18 of the SLC26A7 gene (P628Qfs*11), which encodes for a new iodide transporter. This variant is predicted to result in a truncated protein. Notably, the patient's euthyroid brother was heterozygous for the same mutation. No renal acid-base abnormalities were found and the administration of 1 mg of iodine failed to correct hypothyroidism.
We described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.
在这项研究中，我们使用靶向下一代测序（NGS）技术，研究了一名 19 岁突尼斯男性先天性甲状腺功能减退症（CH）的遗传基础，该患者表现为严重的甲状腺功能减退症和甲状腺肿。
先证者在 18 岁时出现甲状腺肿。重要的是，他没有表现出智力迟钝的迹象，而且他的生长是成比例的。过氯酸盐诱导的碘释放试验检测到部分碘化器官化缺陷。NGS 在 SLC26A7 基因（P628Qfs*11）的 18 号外显子中发现了一种新的纯合突变，该基因编码一种新的碘转运体。该变体预计会导致截短的蛋白质。值得注意的是，患者的甲状腺功能正常的兄弟为同一突变的杂合子。未发现肾脏酸碱平衡异常，给予 1 毫克碘也未能纠正甲状腺功能减退症。
我们描述了首例由于 SLC26A7 基因突变导致的青春期后期诊断的伴甲状腺肿的 CH 病例。
