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Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.
Ital J Pediatr
May 2024
Laboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.
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.
Exogenous iodide ameliorates perchlorate-induced thyroid phenotypes in threespine stickleback.
Gen Comp Endocrinol
March 2017
Center for Bioengineering Innovation & Department of Biological Sciences, Northern Arizona University, Flagstaff, AZ 86011, USA. Electronic address:
Perchlorate is a ubiquitous environmental contaminant that has widespread endocrine disrupting effects in vertebrates, including threespine stickleback (Gasterosteus aculeatus). The target of perchlorate is thyroid tissue where it induces changes in the organization, activation, and morphology of thyroid follicles and surrounding tissues. To test the hypothesis that some phenotypes of perchlorate toxicity are not mediated by thyroid hormone, we chronically exposed stickleback beginning at fertilization to perchlorate (10, 30, 100ppm) or control water with and without supplementation of either iodide or thyroxine (T).
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