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- Title
Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.
- Authors
Sciarroni, Elisabetta; Montanelli, Lucia; Di Cosmo, Caterina; Bagattini, Brunella; Comi, Simone; Pignata, Luisa; Brancatella, Alessandro; De Marco, Giuseppina; Ferrarini, Eleonora; Nencetti, Chiara; Sessa, Maria Rita; Latrofa, Francesco; Santini, Ferruccio; Tonacchera, Massimo; Agretti, Patrizia
- Abstract
Background: 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. Case presentation: 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. Conclusions: We described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.
- Subjects
HYPOTHYROIDISM diagnosis; GOITER diagnosis; GOITER treatment; THYROID gland physiology; PHYSICAL diagnosis; BIOPSY; THYROXINE; THYROID gland function tests; GOITER; GENOMICS; GENES; THYROID gland; GENETIC mutation; CONGENITAL hypothyroidism; RADIONUCLIDE imaging; GENETIC testing
- Publication
Italian Journal of Pediatrics, 2024, Vol 50, Issue 1, p1
- ISSN
1720-8424
- Publication type
Article
- DOI
10.1186/s13052-024-01672-3