Defects of Thyroid Hormone Synthesis and Action

Zeina C. Hannoush, Roy E. Weiss

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)375-388
Number of pages14
JournalEndocrinology and Metabolism Clinics of North America
Issue number2
StatePublished - Jun 2017


  • Congenital hypothyroidism
  • Deiodinase
  • Dysgenesis
  • Dyshormonogenesis
  • Goiter
  • Resistance to thyroid hormone
  • Thyroid hormone receptors

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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