Defects of Thyroid Hormone Synthesis and Action

• Autores: Zeina C. Hannoush, Roy E. Weiss
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 46, Nº. 2, 2017 (Ejemplar dedicado a: Genetics of Endocrine Disorders), págs. 375-388
• Idioma: inglés
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• Resumen

  • Congenital hypothyroidism (CH) is the most common inborn endocrine disorder and causes significant morbidity. To date, we are only aware of the molecular basis responsible for the defects in a small portion of patients with CH. A better understanding of the pathophysiology of these cases at the genetic and molecular basis provides useful information for proper counseling to patients and their families a well as for the development of better targeted therapies. This article provides a succinct outline of the pathophysiology and genetics of the known causes of thyroid dysgenesis, dyshormonogenesis, and syndrome of impaired sensitivity to thyroid hormone.