{Reference Type}: Case Reports
{Title}: Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.
{Author}: Sciarroni E;Montanelli L;Di Cosmo C;Bagattini B;Comi S;Pignata L;Brancatella A;De Marco G;Ferrarini E;Nencetti C;Sessa MR;Latrofa F;Santini F;Tonacchera M;Agretti P;
{Journal}: Ital J Pediatr
{Volume}: 50
{Issue}: 1
{Year}: 2024 May 29
{Factor}: 3.288
{DOI}: 10.1186/s13052-024-01672-3
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>We described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.