%0 Case Reports
%T Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.
%A Sciarroni E
%A Montanelli L
%A Di Cosmo C
%A Bagattini B
%A Comi S
%A Pignata L
%A Brancatella A
%A De Marco G
%A Ferrarini E
%A Nencetti C
%A Sessa MR
%A Latrofa F
%A Santini F
%A Tonacchera M
%A Agretti P
%J Ital J Pediatr
%V 50
%N 1
%D 2024 May 29
%M 38812002
%F 3.288
%R 10.1186/s13052-024-01672-3
%X <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.