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Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.
- Source :
-
Italian Journal of Pediatrics . 5/29/2024, Vol. 50 Issue 1, p1-6. 6p. - Publication Year :
- 2024
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17208424
- Volume :
- 50
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Italian Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 177559562
- Full Text :
- https://doi.org/10.1186/s13052-024-01672-3