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Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.
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.
Afiliación
  • Sciarroni E; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy. e.sciarroni@gmail.com.
  • Montanelli L; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Di Cosmo C; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Bagattini B; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Comi S; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Pignata L; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Brancatella A; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • De Marco G; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Ferrarini E; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Nencetti C; Laboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.
  • Sessa MR; Laboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.
  • Latrofa F; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Santini F; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Tonacchera M; Department of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
  • Agretti P; Laboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.
Ital J Pediatr ; 50(1): 106, 2024 May 29.
Article en En | MEDLINE | ID: mdl-38812002
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hipotiroidismo Congénito / Transportadores de Sulfato / Homocigoto / Mutación Límite: Adolescent / Humans / Male Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hipotiroidismo Congénito / Transportadores de Sulfato / Homocigoto / Mutación Límite: Adolescent / Humans / Male Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido